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Multiple Endocrine Neoplasia type 1 (MEN1) is a rare genetic disease, characterized by co-occurrence of several lesions of the endocrine system. In MEN1, the pathogenic MEN1 gene mutations lead to the Abnormal expression of menin, a critical tumor suppressor protein. We here reported a case of a 14-yearold male with insulinoma and primary hyperparathyroidism. Genetic testing demonstrated a novel heterozygote variant c.587delA of MEN1, resulting in the substitution of the 196th amino acid, changing from glutamic acid to glycine, followed by a frameshift translation of 33 amino acids. An identical variant was identified in the proband's father, who was further diagnosed with hyperparathyroidism. To the best of our knowledge, this is the first report of MEN1 syndrome caused by the c.587delA MEN1 variant. Observations indicated that, despite sharing the same MEN1 gene change, family members exhibited diverse clinical phenotypes. This underscored the presence of genetic anticipation within the familial context. [ABSTRACT FROM AUTHOR]

The article discusses a case of hypercalcaemia in a 16-year-old male with a complex medical history, including trisomy 21 and intractable epilepsy, who was on a ketogenic diet. The hypercalcaemia was managed with various treatments, including denosumab and bisphosphonates, before ultimately ceasing the ketogenic diet, which led to the normalization of calcium levels. The article highlights the challenges of managing hypercalcaemia in patients on a ketogenic diet and emphasizes the importance of monitoring serum calcium levels and renal function in such cases. [Extracted from the article]

Background: Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor (AR) gene. Case presentation: We herein present the case of a 14-year-old adolescent with primary amenorrhea and suspected delayed puberty whose diagnostic journey led to the identification of CAIS through the demonstration of a novel AR variant (c.159_207del). Case-based review: Our report encompasses the complexity of CAIS management, focusing on the risk of malignancy, surveillance options, hormone replacement therapy, timing of an eventual gonadectomy, and the psychosocial impact of such a diagnosis. An algorithm has been formulated for the management of CAIS starting in adolescence, highlighting the conservative approach for those patients unwilling to undergo gonadectomy. Conclusions: Primary amenorrhea and delay in puberty development may provide clues, ultimately leading to a diagnosis of CAIS. This review emphasizes the cruciality of a multidisciplinary approach in managing patients with CAIS, needing for an individualized care to optimize the overall outcome. [ABSTRACT FROM AUTHOR]

Objectives: The aim of this study is to analyze the epidemiological characteristics and the biological profile of children from the southeast of Romania who have been newly diagnosed with type 1 diabetes (T1DM) and to investigate the potential relationships between vitamin D deficiency and the onset of this disease, especially in the context of the COVID-19 pandemic. Methods: This is a retrospective study that included 79 children under the age of 18 who were diagnosed with T1DM at the St. Ioan Galati Children's Emergency Clinical Hospital between 2018 and 2023. Their demographic data (age, sex, and home environment), medical history (family medical history, birth weight, Apgar score, and type of nutrition), and biological parameters, including glycemia, HbA1C, and vitamin D level, were collected. We used advanced statistical methods to compare the levels of vitamin D in the children with T1DM with a control group of nondiabetic children. Results: The demographic characteristics of new T1DM are a median age of 9 and female/male sex ratio of 1:3, with 50.6% living in urban areas, 59.5% with a normal body mass index, and 74.6% presenting with ketoacidosis. Vitamin D deficiency was found in 52% of diabetic cases compared to 2.53% in the nondiabetic controls. Conclusions: There is an increasing incidence of pediatric T1DM. Diabetic ketoacidosis was frequently diagnosed as an initial manifestation and has frequently accompanied lower levels of vitamin D. Children with T1DM showed significant vitamin D deficiencies compared to the control group, highlighting the need for the monitoring and supplementation of this vitamin. [ABSTRACT FROM AUTHOR]

Background: Brain magnetic resonance imaging (MRI) is mandatory or highly recommended in many pediatric endocrinological conditions to detect causative anatomic anomalies and rule out neoplastic lesions. However, MRI can also show findings associated with the underlying clinical condition, as well as unrelated "incidentalomas". These latter findings are often abnormalities with a high incidence in the general population for which there is no clear literature regarding their management, especially in pediatric patients. The present study aimed to evaluate the number of unnecessary performed MRIs in pediatric endocrinology. Methods: Retrospective analysis on 584 MRI scans performed in 414 patients (254 growth hormone deficiency, 41 other causes of short stature, 116 central precocious puberty). Results: The MRI scans were completely normal in 67% of the individuals, and the prevalence of individuals who underwent more than one MRI was 18%, with no significant differences among the groups. The overall prevalence of incidentalomas was 17%. Among 170 repeated MRI scans, 147 (86%) were not required according to a dedicated protocol. Only five patients (four GHD, one Noonan) correctly repeated the MRI. All the repeated MRI scans did not reveal any progression in the findings. If we include the MRIs performed in cases of OCSS other than Noonan syndrome (n=32) and girls with CPP older than 6 years (n=89), an additional 121 MRIs could have been avoided, leading to a total number of unnecessary MRIs to 268 (46%). Conclusions: Only a few specific neuroimaging findings in endocrinologic pediatric patients warrant further investigation, while too often repeated imaging is carried out unnecessarily. We advocate the importance of guidelines to reduce costs for both the healthcare system and patients' families, as well as to alleviate physical and psychological distress for patients and caregivers. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the diagnosis and treatment processes of patients who underwent surgery due to suspected malignancy or detection of RET proto-oncogene in the pediatric endocrinology clinic. Material and Method: The data of 21 patients who underwent thyroidectomy in our center were retrospectively analyzed. Demographic and clinical characteristics of the patients, laboratory and imaging results were examined. In addition, patient files were scanned in terms of the treatment protocol, surgical interventions, treatment complications, and pathology reports. Results: Fourteen (66%) of the patients were female and seven (34%) were male. The mean age of the patients at the time of diagnosis was 12.8 (±3.84). Pathology results revealed; papillary thyroid carcinoma in 13 (61%) patients (11 classical variants, one follicular variant, one diffuse sclerosing variant), two (9%) follicular thyroid cancer, and one (5%) poorly differentiated thyroid cancer. Neoplastic C-cell hyperplasia was found in two (9%) and colloid hyperplasia in two (9%) of the four patients who underwent prophylactic thyroidectomy due to family history. Apart from these, medullar thyroid carcinoma with thyroid capsule and lymph node metastases was detected in another patient (5%). Surgically, total thyroidectomy was performed in 10 patients, lymph node dissection with thyroidectomy in six patients, subtotal thyroidectomy in one patient, and lobectomy in four patients. Complementary surgery was performed in three patients with pathology results. Conclusion: Suspicious cases should be evaluated rapidly due to the high risk of malignancy in this age group and should be approached as a multidisciplinary approach in light of current guidelines. [ABSTRACT FROM AUTHOR]

Clinical decision-making for individuals with 46,XY disorders/differences of sex development (DSD) remains unsettled and controversial. The North American DSD Clinician Survey examines the recommendations of a large group of clinical specialists over the last two decades. Active members of the (Lawson Wilkins) Pediatric Endocrine Society and the Societies for Pediatric Urology were invited to respond to a web-based survey at three different timepoints: 2003–2004 (T1), 2010–2011 (T2), and 2019–2020 (T3). Data from 429 participants in T1, 435 in T2, and 264 in T3 were included in this study. The participants were presented with three XY newborn clinical case scenarios—micropenis, partial androgen insensitivity syndrome, and iatrogenic penile ablation—and asked for clinical management recommendations. The main outcomes assessed included the recommended gender of rearing, surgical decision-maker (parent or patient), timing of genital surgery, and age at which to disclose medical details and surgical history to the patient. For all scenarios, the overwhelming majority recommended rearing as male, including a significant increase across timepoints in those recommending a male gender of rearing for the infant with penile ablation. The proportions recommending female gender of rearing declined significantly across timepoints. In general, most recommended parents (in consultation with the physician) serve as surgical decision-makers, but these proportions declined significantly across timepoints. Recommendations on the timing of surgery varied based on the patient's gender and type of surgery. There has been a shift in recommendations away from the "optimal gender policy" regarding gender of rearing and surgical interventions for patients with XY DSD. [ABSTRACT FROM AUTHOR]

Background New guidelines in the Consensus Statement on Management of Intersex Disorders by the Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus Group 2006 introduced multidisciplinary teams (MDTs) to provide care that involves collaboration between healthcare professionals, parents, and children with variations of sex characteristics (VSC). Aim The aim of this study was to examine a neglected but important field of collaboration among healthcare professionals and peer support groups who provide care for people with VSC. Outcomes The study outcome was the information obtained regarding the actual composition and collaboration of the multidisciplinary teams caring for children with VSC, including their collaboration with parents, peer support groups, and other care providers. Methods In this study we used an exploratory qualitative design based on mixed focus groups (in terms of professional background) and reflexive thematic analysis. Semi-structured focus group interview guides were used to obtain information about the participants' viewpoints on the composition and challenges of, and collaboration between, peer support groups and members of multidisciplinary teams working to care for children with VSC and their parents. Seven focus groups were conducted with healthcare professionals and peer support groups in care teams in Central, Northern, and Western Europe. The data from the focus groups were examined using reflexive thematic analysis. Results The participants in the focus groups provided information regarding the use of multidisciplinary and interdisciplinary child- and family-oriented approaches and the strengths and challenges of collaboration and peer support groups. The results showed that the teams used a predominantly multidisciplinary approach and suffered from a lack of psychosocial providers, poor collaboration with peer support groups, and poor implementation of shared decision-making to address the clinical uncertainty of parents and people with VSC. Clinical Implications Clinicians should provide more psychosocial support and improve collaboration with peer support groups and nonmedical professionals. Strengths and Limitations This study is one of the first qualitative studies to provide information on the collaboration of multidisciplinary teams working to provide care for children with VSC and collaborate with their parents in the European context. However, due to language barriers, the dropout rate of participants, and the under-representation of peer support groups in the sample there was a lack of information on collaboration among healthcare professionals and peer support groups. Conclusions The collaboration between MDTs and parents does not involve adequate psychosocial and peer support or shared decision-making to address the uncertainty experienced by children and families when faced with information about variations of sex characteristics. [ABSTRACT FROM AUTHOR]

Background: The aim of this study was to investigate the role of systemic immune-inflammatory index and systemic inflammation response index in predicting early renal impairment in children with type 1 diabetes mellitus (T1DM). Methods: This is a retrospective cohort study which searched the electronic medical records of patients consecutively admitted to Pediatric Endocrinology Unit with the diagnosis of type 1 diabetes mellitus between August 2022 and July 2023. Results: A total of 100 children with the diagnosis of T1DM were enrolled in the study. Early stage diabetic nephropathy (DN) was found in 34 patients. Patients with DN showed significantly higher HbA1C, microalbuminuria, cholesterol, TLC, platelet, neutrophil count, NLR, PLR, SII, and SIRI than the DM without DN. It was discovered that DN was independently correlated with NLR, PLR, SII, and SIRI. Conclusions: SIRI and SII are easily available and affordable inflammatory markers that may serve as independent early predictors of diabetic nephropathy in individuals with type 1 diabetes. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study is to describe the impact of the COVID-19 pandemic on Glycemic Control (GC) in children with Type 1 Diabetes Mellitus (T1DM) and the role of online consultation. Methods: We conducted a cross-sectional analytical study of children with T1DM who were controlled at Pediatric Endocrinology Clinic Hasan Sadikin General Hospital (RSHS) and Dr. Moewardi General Hospital (RSDM) before and during the COVID-19 pandemic. We compare average HbA1c levels before and during the COVID-19 era for the GC parameter. Results: A total of 55 children with T1DM were recruited in this study: 29 boys [52.7%] and 26 girls [47.3%]; the majority are adolescents [74.5%], mean age: 13.47 ± 3.1 years, the median duration of suffering from diabetes: 33 months. We did a paired t-test on 50 children with the result that average HbA1c significantly decrease from 10.3± 2.3% to 9,4±2.0 % before and during the pandemic era (p<0.001). There was a significant increase in BMI (0.75, p=0.001) but do not significantly correlate with HbA1c values before and during the pandemic. Conclusion: There has been a significant decrease in HbA1c during the COVID-19 pandemic. Implementation of work-from-home and semi-lockdown policy encourages parents to monitor the GC of their children better. Pediatric endocrinologists and residents in RSHS and RSDM assisted patients and their parents in achieving better GC during the COVID-19 pandemic through proper consultation, education, and medical escort for outpatient clinics and online consultations using a social media group specially designated for T1DM families. [ABSTRACT FROM AUTHOR]

The study was carried out to determine the psychosocial outcomes of advanced hybrid closed-loop (AHCL) systems in children and adolescents with type 1 diabetes (T1D). Single-center and cohort study with a duration 6 months consisted of 60 children and adolescents with T1D. Standard clinical procedures, including both glycemic indicators, e.g., sensor-measured time within the 70–180 mg/dL range and glycated hemoglobin (HbA1c) levels, and psychosocial metrics were used for data collection. The psychosocial metrics included the Pediatric Quality of Life Inventory (PedsQL) 3.0 Diabetes Module for both children (8–12 years) and parents; the Quality of Life for Youth scale for adolescents (13–18 years); the Strengths and Difficulties Questionnaire (SDQ); the Hypoglycemia Fear Survey for Children (HFS-C); the Revised Child Anxiety and Depression Scale (R-CADS); and AHCLS-specific DTSEQ satisfaction and expectation survey. These metrics were evaluated at the baseline and after 6 months of AHCL use. Of the 60 children and adolescents with T1D for whom the AHCL system was utilized, 41 of them, 23 female and 18 male, completed the surveys. The mean age of the 41 children and adolescents was 12.5 ± 3.2 (min. 6.7, max. 18) years. The time spent within the target glycemic range, i.e., time-in-range (TIR), improved from 76.9 ± 9% at the baseline to 80.4 ± 5% after 6 months of AHCL system use (p = 0.03). Additionally, HbA1c levels reduced from 7.1% ± 0.7% at the baseline to 6.8% ± 0.8% after 6 months of AHCL system use (p = 0.03). The most notable decline in HbA1c was observed in participants with higher baseline HbA1c levels. All patients' HFS-C and AHCL system-specific DTSEQ satisfaction and expectation survey scores were within the normal range at the baseline and remained unchanged during the follow-up period. No significant difference was found in the R-CADS scores of children and adolescents between baseline and after 6 months of AHCL system use. However, there was a significant decrease in the R-CADS scores of the parents. Patients' PedsQL scores were high both at the baseline and after 6 months. The SDQ scores were high at baseline, and there was no significant improvement at the end of 6 months. Conclusion: This is the first study to investigate in detail the psychosocial outcomes of AHCL system use in T1D patients and their parents. Although state-of-the-art technologies such as AHCL provide patients with more flexibility in their daily lives and information about glucose fluctuations, the AHCL resulted in a TIR above the recommended target range without a change in QOL, HFS-C, SDQ, and R-CADS scores. The scores obtained from the R-CADS conducted by the parents of the children indicated that the use of pumps caused a psychological improvement in the long term, with a significant decrease in the R-CADS scores of the children and adolescents with T1D. What is Known: • Previous studies focused on clinical outcomes of AHCL systems in pediatric T1D patients, showing glycemic control improvements. • Limited attention given to psychosocial outcomes of AHCL systems in children and adolescents with T1D. • Crucial psychosocial factors like quality of life, emotional well-being, and fear of hypoglycemia underexplored in AHCL system context. What is New: • First study to comprehensively examine psychosocial outcomes of AHCL systems in pediatric T1D patients. • Study's robust methodology sets new standard for diabetes technology research and its impact on qualiy of life. [ABSTRACT FROM AUTHOR]

Introduction: Prader-Willi syndrome (PWS) is a genetic disorder characterized by hypothalamic-pituitary deficiencies including hypogonadism. In girls with PWS, hypogonadism can present early in childhood, leading to genital hypoplasia, delayed puberty, incomplete pubertal development, and infertility. In contrast, girls can present with premature activation of the adrenal axis leading to early pubarche and advanced bone age. We aim to evaluate the progression of puberty and adrenarche signals in girls with PWS. Methodology: A longitudinal retrospective cohort study included girls with PWS followed at a Pediatric Endocrinology Outpatient Clinic in a Tertiary University Hospital in Sao Paulo, Brazil from 2002 to 2022. Data collected via chart review included clinical information on birth history, breast and pubic hair Tanner stages, presence of genital hypoplasia, age at menarche, regularity of menstrual cycles, body mass index (BMI) z-score, final height, age of initiation of estrogen replacement and growth hormone replacement, as well as results for PWS genetic subtype; biochemical investigation (LH, FSH, estradiol, DHEA-S); radiographic bone age and pelvic ultrasound. Results: A total of 69 girls were included in the study and the mean age of puberty onset was 10.2 years in those who started puberty after the age of 8 years. Breast Tanner stage IV was reached by 29.1% girls at a mean age of 14.9 years. Spontaneous menarche was present in 13.8% and only one patient had regular menstrual cycles. Early adrenarche was seen in 40.4% of cases. Conclusion: Our study demonstrated in a large sample that girls with PWS often present with delayed onset of puberty despite frequent premature adrenarche. Based on our results, we suggest an estrogen replacement protocol for girls with PWS to be started at the chronological age or bone age of 12–13 years, taking into consideration the uterus size. Further prospective studies are needed. [ABSTRACT FROM AUTHOR]

Purpose The incidence of endocrine sequelae following central nervous system (CNS) infections in pediatric age is not known. We conducted this scoping review to assess the incidence of endocrinological alterations in patients with prior CNS infections in pediatric age. Methods Our screening process included both randomized and non-randomized controlled trials. All types of observational studies, prospective and retrospective, have been included. Results Ten studies were included in our review. The cumulative number of patients in all of the studies was 211, the mean age of the population study was 4.9 (±5 years). The included papers described the following acute CNS infections: meningitis (nine studies reported eighty-five cases) and encephalitis (three studies described sixty-five cases). Two case reports and one retrospective study reported hypopituitarism as a consequence of Mycobacterium tuberculosis CNS infection. In five studies the patients developed endocrine comorbidities at the time of infection. Another study analyzed 49 young adults who previously had tuberculous meningitis at a mean age of 5.9 ± 5.0 years: seven patients had growth hormone deficiency, four of whom also had gonadotropin deficiency; the other three had gonadotropin deficiency, corticotropin deficiency, and mild hyperprolactinemia. Conclusion Standardized multidisciplinary follow-up and research of patients with prior CNS infection is crucial. Although pituitary reserve screening is not commonly performed in these patients, clinical and research centers should set up an endocrinological evaluation with monitoring of auxological parameters to detect the signs and symptoms of hypopituitarism early and to initiate the appropriate care in children with previous CNS infections. [ABSTRACT FROM AUTHOR]

For pediatric patients with cancer, a healthy lifestyle is important for treatment outcomes and beyond. General pediatricians play a major role in the care of these patients, particularly given the improved rates of survival. Pediatric obesity has many negative consequences, but it is an area where primary care providers can make an impact and provide support to childhood cancer survivors. To provide the best quality of care for this population, there must be collaboration between primary care and oncology providers. Additionally, general practioners should feel empowered to offer standard nutrition and physical activity recommendations to all childhood cancer survivors. For pediatric patients who carry a cancer diagnosis, cure is no longer the only goal. Pediatric providers across specialties need to work as a team to improve long-term quality of life for these patients, starting with modifiable healthy habits. [ABSTRACT FROM AUTHOR]

Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and United States culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: (1) diagnosis and genetics, (2) growth, (3) puberty and estrogen treatment, (4) cardiovascular health, (5) transition, (6) fertility assessment, monitoring, and counselling, (7) health surveillance for comorbidities throughout the lifespan, and (8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting. [ABSTRACT FROM AUTHOR]

Background: Individuals with hyperinsulinemia may initially not meet any diagnostic criteria for metabolic syndrome, though displaying a higher risk of cardiovascular complications combined with obesity, diabetes, and hypertension. Aim: The main objective of our study was to assess the diagnostic accuracy of various cardiovascular risk indices in hyperinsulinemic children and adolescents; a secondary objective was to estimate the optimal cut-offs of these indices. Patients and methods: This retrospective single-center study was conducted on 139 patients aged 12.1 ± 2.9 years, managed for hyperinsulinism. Results: We found statistically significant differences in homeostasis model assessment of insulin resistance index (HOMA-IR), triglyceride glucose index (TyG), TyG-body mass index, visceral adiposity index, lipid accumulation product index, fatty liver index, and hepatic steatosis index. At the linear logistic regression assessment, we found that insulin growth factor-1 (IGF-1), HOMA-IR, and ALT/AST ratio were independently associated with confirmed hyperinsulinism. At the multivariate analysis, IGF-1 levels over 203 ng/mL and HOMA-IR higher than 6.2 were respectively associated with a 9- and 18-times higher odds ratio for hyperinsulinism. The other investigated parameters were not significantly related to hyperinsulinism, and could not predict either the presence of hyperinsulinemia or a subsequent cardiovascular risk in our patients. Conclusion: Commonly used indices of cardiovascular risk in adults cannot be considered accurate in confirming hyperinsulinism in children, with the exception of HOMA-IR. Further studies are needed to verify the usefulness of specific cardiovascular risk indices in hyperinsulinemic children and adolescents. [ABSTRACT FROM AUTHOR]

Background: One of the most frequent reasons for referral to pediatric endocrinology units is short stature. Children’s short height has a complicated etiology that includes genetics, race, gender, nutrition, and several endocrine hormones. Objective: To determine the etiological spectrum of short stature among children presenting to endocrinology outpatient clinics in a tertiary care hospital. Methods: This descriptive cross-sectional study was performed in the outpatient clinic of the Endocrinology Department at the National Institute of Child Health Hospital from September to December 2022. Short stature was defined as height for age

IntroductionInsulin is a high-risk medication, and errors can lead to patient morbidity and mortality. The American Board of Pediatrics recommends that all board-certified pediatricians be able to develop an insulin management plan for patients with diabetes. A needs assessment of pediatric residents revealed low self-efficacy at developing a new subcutaneous insulin plan despite didactic instruction on the topic.MethodsWe created a 90-minute interactive workshop that targeted resident skills in devising subcutaneous insulin plans. Learners engaged in small-group, problem-based learning and peer teaching to promote active learning and participation. We compared self-efficacy and knowledge before and after the intervention using paired t tests and evaluated learner satisfaction.ResultsTwenty-eight pediatric interns participated, with 25 completing both the pre- and postworkshop surveys. The primary outcome was self-efficacy (an individual's confidence in the ability to perform a specific task in a given domain). There was a statistically significant improvement in self-efficacy at creating a new subcutaneous insulin plan ( p < .001) as well as knowledge ( p < .001) after course completion. Learners were highly satisfied with the course, with a mean overall conference quality rating of 4.8 (SD = 0.4) based on a 5-point Likert scale (1 = poor, 5 = outstanding).DiscussionAn interactive workshop employing active learning methods resulted in improved self-efficacy and knowledge in first-year pediatric residents. Future work is needed to determine the impact of this workshop on patient care outcomes.

Introduction: We present the evolution of GHD in adolescent males with persistent growth failure, in whom the diagnosis was established after a second GH stimulation test (GST). Methods: We performed a retrospective chart review of children who presented for short stature (height less < 2SD for mean/mid-parental height) and/or growth failure (sustained growth velocity < 0 SD) to pediatric endocrinology at Mount Sinai Kravis Children's Hospital, New York and who had 2 GSTs. Data collected from electronic medical records were analyzed using SPSS v28.0 Results: Of 53 patients included, 42 were males. Average GH peak on initial GST was 15.48 ± 4.92 ng/ml, at 10.07 ± 2.65 years, mean height -1.68 ± 0.56SD(28% had <2SD), IGF-1 -1.00 ± 0.88SD. After 2.23 ± 1.22 years, at 12.04 ± 2.41years, height SDs decreased to -1.82 ± 0.63SD and IGF-1 was -1.08 ± 0.84SD. At repeat GST, average GH peak was 7.59 ± 2.12 ng/dL, with 36% ≤7 ng/dl and 32% in puberty. 12 males reached adult height of 0.08 ± 0.69 SD with a mean height gain of 1.83 ± 0.56SD(p<0.005), IGF-1 of -1.15 ± 0.81SD after 4.64 ± 1.4 years of GH. Conclusion: We offer evidence for Evolving Growth Hormone Deficiency (EGHD) through repeat GST in children with persistent growth slowdown, even with pubertal progression; emphasizing the need for careful longitudinal follow-up to make accurate diagnosis. [ABSTRACT FROM AUTHOR]

STUDY QUESTION Is the 24-h urinary gonadotropin assay an effective diagnostic tool in central precocious puberty (CPP) in girls? SUMMARY ANSWER This study is the first to provide 24-h urinary gonadotropin assay data, using an electrochemiluminescent immunoassay (CMIA), and to report its usefulness as a tool for the diagnosis of CPP. WHAT IS KNOWN ALREADY Data about the GnRH test in the diagnosis of CPP are variable and there is no consensus regarding its interpretation. The measurement of FSH and LH in urines was previously reported to be an alternative biological tool. STUDY DESIGN, SIZE, DURATION This is a retrospective two-cohort study, involving a setting and a validation cohort. A total of 516 girls, included between October 2012 and July 2015, and 632 urinary collections were analyzed in the setting cohort. In the validation cohort, 39 girls were included between January 2021 and May 2023, and 49 urinary collections were analyzed. PARTICIPANTS/MATERIALS, SETTING, METHODS This study included girls who consulted for an investigation of disturbed growth rate or a clinical suspicion of puberty onset in different medical centres across France (setting cohort). Girls with a suspicion of precocious puberty onset were addressed at the expert centre of paediatric endocrinology of the Groupement Hospitalier Lyon Est (validation cohort). Pelvic ultrasonography was performed and enabled their classification according to clinical and morphologic changes criteria (prepubertal or pubertal groups). The parents collected 24-h urine samples (u24) according to standardized instructions. FSH and LH (urinary or plasmatic) were measured using a current and automated CMIA. MAIN RESULTS AND THE ROLE OF CHANCE The area under the ROC curves for CPP prediction was 0.709 for u24FSH (P  < 0.001), 0.767 for u24LH (P  < 0.001), and 0.753 for the u24LH/u24FSH ratio (P  < 0.001). We retained all possible combinations of the four thresholds in the validation cohort (u24FSH = 1.1 or 2.0 IU/24 h; u24LH = 0.035 or 0.08 IU/24 h). The combination of u24FSH > 1.1 IU/24 h and u24LH > 0.08 IU/24 h had a positive PV of 85.7% and a negative PV of 94.3%, a sensitivity of 85.7% and a specificity of 94.3%, for classifying prepubertal and pubertal girls in this cohort. LIMITATIONS, REASONS FOR CAUTION This is a retrospective study, in which a margin of error remains due to the inherent uncertainty regarding the clinical assessment of pubertal onset. It must be considered that the thresholds can only apply to the used reagents; measurements without extractions using other reagents are likely to show important heterogeneity. WIDER IMPLICATIONS OF THE FINDINGS The assay performed herein is a simple, non-invasive, and analytically robust technique meeting the criteria for an alternative to the GnRH test which could be used to supplement its lack of sensitivity. STUDY FUNDING/COMPETING INTEREST(S) No specific funding was used. All authors declared no conflict of interest. TRIAL REGISTRATION NUMBER In-house #23-5214 registered study. [ABSTRACT FROM AUTHOR]

Rickets results from impaired mineralization of growing bone due to alterations in calcium and phosphate homeostasis. Clinical signs of rickets are related to the age of the patient, the duration of the disease, and the underlying disorder. The most common signs of rickets are swelling of the wrists, knees or ankles, bowing of the legs (knock-knees, outward bowing, or both) and inability to walk. However, clinical features alone cannot differentiate between the various forms of rickets. Rickets includes a heterogeneous group of acquired and inherited diseases. Nutritional rickets is due to a deficiency of vitamin D, dietary calcium or phosphate. Mutations in genes responsible for vitamin D metabolism or function, the production or breakdown of fibroblast growth factor 23, renal phosphate regulation, or bone mineralization can lead to the hereditary form of rickets. This position paper reviews the relevant literature and presents the expertise of the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology (SIEDP). The aim of this document is to provide practical guidance to specialists and healthcare professionals on the main criteria for diagnosis, treatment, and management of patients with rickets. The various forms of rickets are discussed, and detailed references for the discussion of each form are provided. Algorithms to guide the diagnostic approach and recommendations to manage patients with rare forms of hereditary rickets are proposed. [ABSTRACT FROM AUTHOR]

Precocious puberty is a common cause for addressing pediatric patients in endocrinology offices, a prevalence that can be significantly influenced by environmental factors. According to studies, these factors have an impact even in the intrauterine life. Diet, especially from a qualitative point of view, defines one of the risk factors for precocious puberty and the most easily modifiable. We consider it useful to bring up the characteristics of precocious puberty and the multiple repercussions that affect both physical and mental development, with the mention that, in the absence of a prompt diagnosis and correctly performed to lead to an effective therapeutic management, these children are prone to chronic pathologies, but also to stigmatization, in the collectivities they belong to. [ABSTRACT FROM AUTHOR]

Objective: Hashimoto's thyroiditis (chronic autoimmune thyroiditis) is the most common cause of goiter and acquired hypothyroidism among children and adolescents. It is an autoimmune disease intrinsic to thyroid tissue. In our study, we aim to review the files of children and adolescents with Hashimoto's thyroiditis, being followed up in the Department of Pediatric Endocrinology, and to compare these results with findings in the literature. Material and Methods: In the study, the files of 114 children and adolescents with Hashimoto's thyroiditis, being followed up in Zeynep Kamil Maternity and Children's Diseases Health Training and Research Center, Pediatric Endocrinology Department, were reviewed retrospectively. Patients were grouped by age at diagnosis and the clinical parameters were compared between the groups. Results: There were 102 females (89.5%) and 12 males (10.5%), with a female/male ratio of 8.5/1. The average age of the patients at diagnosis was 11.91±3.26 years. 77 (67.5%) patients have a positive family history. 14 (12.28%) patients have a concomitant autoimmune disease. On the first admission to the hospital, 47 (41.2%) patients were euthyroid, 46 (40.4%) patients were subclinical hypothyroid, 10 (8.8%) patients were overt hypothyroid, 3 (2.6%) patients were subclinical hyperthyroid, and 8 (7.0%) patients were overt hyperthyroid. Antithyroid peroxidase antibodies were positive in 109 (95.6%) and antithyroglobulin antibodies were positive in 105 (92.1%) of the patients. In the group under 12 years old, there were 7 (13.2%) patients with radiation exposure, whereas in the group over 12 years old, there was only 1 (1.9%) patient with radiation exposure, and thus the difference between the two groups was statistically meaningful. Conclusion: Patients who have clinical and laboratory evidence of thyroid disease should be examined for autoimmune thyroiditis. Especially, it is very important that patients who have clinical evidence of other autoimmune diseases, have a family history of autoimmune thyroiditis, and/or a history of radiation exposure should be examined periodically and followed up closely. [ABSTRACT FROM AUTHOR]

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To evaluate the impact of adding medical scribes to 2 distinct outpatient pediatric subspecialty clinics on provider burnout, visit length, and patient satisfaction. A total of 2 pediatric endocrinologists and 2 developmental-behavioral pediatrics/pediatrician (DBP) were randomly assigned based on days of the week to see patients aged 0 to 21 years in their clinics with and without in-person medical scribes from February 2019 to February 2020. Parent satisfaction rates were examined through pre- and postappointment surveys. Provider burnout rates were assessed through the Maslach Burnout Inventory-Human Services Survey. A retrospective comparative analysis of average appointment duration was undertaken considering the scribe/no scribe random allocation in the examination room. Funding for this pilot provided by the department of pediatrics budgeted funds. Over 2923 appointments during the project dates, 829 appointments were seen with a scribe. The average appointment time for a new DBP appointment was 61 minutes with scribes and 71 minutes without (P <.001). Return patient appointments in DBP averaged 31 minutes with scribes and 43 minutes without (P <.001). There was no significant difference in appointment duration for endocrinology with and without scribes. The average time for chart completion was reduced with the presence of scribes in DBP but not in endocrinology. Out of the 209 families surveyed, patient satisfaction rates with and without a scribe did not differ in that between 96% and 97% of respondents rated the appointment overall as "excellent" for each measure of provider communication with scribes present. Finally, from the Maslach Burnout Inventory-Human Services Survey, the average score across all 4 providers for Emotional Exhaustion and Depersonalization decreased during the project period, whereas Personal Accomplishment scores increased over the project period. Scribes might be more advantageous for some subspecialties that utilize prolonged narratives in clinic notes, like DBP, and an important avenue to consider in reducing provider burnout in busy ambulatory settings. [ABSTRACT FROM AUTHOR]

Introduction: A good screening tool, such as a growth chart, should distinguish between children with normal growth and those with perturbed growth. Suitability of synthetic Indian growth references for diagnosing growth-related disorders for under-five children has not been evaluated. To assess the validity of World Health Organization (WHO) 2006 standards vs synthetic Indian references (2019) (by comparing weight, height, body mass index (BMI), standard deviation scores (SDS) and the composite index of anthropometric failure (CIAF)) in differentiating normal children and children with growth-related disorders. Methods: Records of 2188 children (0-60 months) attending a tertiary centre paediatric outpatient department (OPD) were retrospectively studied; 1854 children were healthy and 334 were diagnosed with growth-related disorders as per the European Society for Paediatric Endocrinology (ESPE) classification. The anthropometric parameters converted to Z-scores for weight-for-age (WAZ), height-for-age (HAZ), BMI-for-age (BAZ) and a CIAF were computed using WHO and synthetic charts; Student's t-test was used for assessing differences and Youden's index for validity. Results: Disease status of children and anthropometric failure on WAZ, HAZ, BAZ and CIAF on both WHO and synthetic charts had a significant association (P-value <0.05). WAZ, HAZ on both charts and CIAF on synthetic chart had a fair to moderate agreement (Kappa statistics) with disease status as per diagnosis (P-value <0.05). The sensitivity and negative predictive value for all anthropometric parameters were higher for synthetic charts. Conclusion: Indian charts were more sensitive for diagnosing growth-related disorders from birth to 60 months of age when compared to WHO growth standards. [ABSTRACT FROM AUTHOR]

This study aimed to evaluate the demographic, clinical, and laboratory characteristics of children with benign transient hyperphosphatasemia (BTH) and to increase awareness of BTH. Children with BTH followed up in a tertiary pediatric endocrinology outpatient clinic were included in this retrospective study. Children who were aged under 5 years, who had no evidence of liver, kidney, or bone disease, who had serum total alkaline phosphatase (ALP) levels above 1000 IU/L, and whose ALP values resolved within 4 months, were included in the study. The study included 10 infants and children (4 females) with BTH who were referred to our clinic during 1 year for high ALP levels. The mean age was 2.4±0.5 years. The mean weight SDS was -0.24±1.27 and the mean height SDS was -0.51±0.67. The mean ALP level was 2.395±934 IU/L. The mean normalization time for serum ALP was 2.4±1.1 months. Benign transient hyperphosphatasemia is an entity that occurs in healthy infants and children without evidence of liver or bone disease and resolves without intervention. [ABSTRACT FROM AUTHOR]

Introduction: Chronic glucocorticoid therapy by systemic and inhaled forms is the most common cause of adrenal insufficiency. There is no administrative form, dosing, duration or underlying disease for which it is more common, although higher dose and prolonged use have highest risk. Clinical case characteristics: A 11-year-old girl was brought with cough and cold for a week, fever, vomiting and headache for one day. She had been diagnosed to have asthma and allergic rhinitis 7 years ago. She was started on Mometasone 120mcg nasal spray OD, used for 4 years and Budesonide 64mcg nasal spray BD for 1 year. She was also put on Formoterol 6mcg + Mometasone 200mcg MDI, used for 4 years, and Formoterol 6mcg + Budesonide 200mcg MDI, used for 1 year. No significant birth or family history. On examination, child was severely stunted and wasted, with height and weight below - 3 standard deviations on IAP growth chart. She was hemodynamically stable, head to toe and systemic examination was normal. Outcome: She was found to have severe hyponatremia, which was corrected. Due to significant past history of chronic usage of intranasal and inhaled corticosteroids, adrenal insufficiency was suspected and serum cortisol levels done, which were low. ACTH stimulation test was administered and serum cortisol levels tested at 30 minutes and 60 minutes, remained below the reference range after the test. Hence the child was diagnosed to have adrenal insufficiency. Pediatric endocrinology reference taken and steroids tapered over several weeks. Serum cortisol levels monitored during follow up were normal. Conclusion: Clinicians must have a high index of suspicion, especially in patients with nonspecific symptoms after cessation of high-dose or long-term steroids and consider testing for cortisol levels. Patient education, monitoring and regular follow up is a key feature of management of this condition. [ABSTRACT FROM AUTHOR]

Background: Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor (AR) gene. Case presentation: We herein present the case of a 14-year-old adolescent with primary amenorrhea and suspected delayed puberty whose diagnostic journey led to the identification of CAIS through the demonstration of a novel AR variant (c.159_207del). Case-based review: Our report encompasses the complexity of CAIS management, focusing on the risk of malignancy, surveillance options, hormone replacement therapy, timing of an eventual gonadectomy, and the psychosocial impact of such a diagnosis. An algorithm has been formulated for the management of CAIS starting in adolescence, highlighting the conservative approach for those patients unwilling to undergo gonadectomy. Conclusions: Primary amenorrhea and delay in puberty development may provide clues, ultimately leading to a diagnosis of CAIS. This review emphasizes the cruciality of a multidisciplinary approach in managing patients with CAIS, needing for an individualized care to optimize the overall outcome.

Objectives: The aim of this study is to analyze the epidemiological characteristics and the biological profile of children from the southeast of Romania who have been newly diagnosed with type 1 diabetes (T1DM) and to investigate the potential relationships between vitamin D deficiency and the onset of this disease, especially in the context of the COVID-19 pandemic. Methods: This is a retrospective study that included 79 children under the age of 18 who were diagnosed with T1DM at the St. Ioan Galati Children’s Emergency Clinical Hospital between 2018 and 2023. Their demographic data (age, sex, and home environment), medical history (family medical history, birth weight, Apgar score, and type of nutrition), and biological parameters, including glycemia, HbA1C, and vitamin D level, were collected. We used advanced statistical methods to compare the levels of vitamin D in the children with T1DM with a control group of nondiabetic children. Results: The demographic characteristics of new T1DM are a median age of 9 and female/male sex ratio of 1:3, with 50.6% living in urban areas, 59.5% with a normal body mass index, and 74.6% presenting with ketoacidosis. Vitamin D deficiency was found in 52% of diabetic cases compared to 2.53% in the nondiabetic controls. Conclusions: There is an increasing incidence of pediatric T1DM. Diabetic ketoacidosis was frequently diagnosed as an initial manifestation and has frequently accompanied lower levels of vitamin D. Children with T1DM showed significant vitamin D deficiencies compared to the control group, highlighting the need for the monitoring and supplementation of this vitamin.

Objective: This study aimed to investigate the diagnostic value of luteinizing hormone (LH) basal values and sex hormone-binding globulin (SHBG) for rapidly progressive central precocious puberty (RP-CPP). Methods: A total of 121 girls presenting with secondary sexual characteristics were selected from the Department of Pediatric Endocrinology, Lianyungang Clinical Medical College of Nanjing Medical University, from May 2021 to June 2023. The children were followed up for 6 months andwere divided into three groups: RP-CPP group (n=40), slowly progressive central precocious puberty (SP-CPP) group (n=40), and premature thelarche (PT) group (n=41). The differences in LH basal values and SHBG among girls in the three groups were compared. ROC curves were drawn to analyze the value of LH basal values and SHBG in identifying RP-CPP. Results: Significant differences were observed in age, height, predicted adult height (PAH), weight, body mass index (BMI), bone age (BA), BA-chronological age (CA), LH basal, LH peak, FSH basal, LH peak/FSH peak, estradiol (E2), testosterone, and SHBG levels between the RP-CPP group and the SP-CPP and PT groups (P < 0.05). The LH basal value in the RP-CPP group was higher than that in the SP-CPP group and the PT group, while SHBG levels were lower than in the latter two groups, and these differenceswere statistically significant (P < 0.05). When the LH basal valuewas =0.58 IU/L and SHBG was =58.79 nmol/L, the sensitivity for diagnosing RP-CPP was 77.5% and 67.5%, and the specificity was 66.7% and 74.1%. Conclusion: Detection of basal LH and SHBG levels allows for early diagnosis of the progression of central precocious puberty. [ABSTRACT FROM AUTHOR]

Paediatric Cushing's disease (CD) is characterized by excess ACTH secretion froma pituitary adenoma, leading to hypercortisolism. It has approximately 5% of the incidence of adult CD and is a rare disorder in the paediatric age range. The four most specific presenting features of hypercortisolism are: change in facial appearance, weight gain, decreased linear growth and virilisation shown by advanced pubic hair for the stage of breast development or testicular volume. The main diagnostic priority is the demonstration of hypercortisolism followed by distinction between its ACTH-dependent and ACTH-independent origin, thus leading to identification of aetiology. All treatment options aim to resolve or control hypercortisolism. Consensus favours transsphenoidal (TSS) pituitary surgery with selective removal of the corticotroph adenoma. TSS in children with CD is now well established and induces remission in 70-100% of cases. External pituitary radiotherapy and bilateral adrenalectomy are second-line therapeutic approaches in subjects not responding to TSS. Long-term medical treatment is less frequently adopted. Recurrence in paediatric CD cases is low with factors predicting relapse being higher post-TSS cortisol and ACTH levels and rapid recovery of the hypothalamic-pituitary-adrenal axis after TSS. In summary, complete excision of the microadenoma with histological and biochemical evidence for this, predicts a low rate of recurrence of CD. Due to the need for rapid diagnosis and management to avoid the burden of prolonged exposure to hypercortisolism, tertiary university centres comprising both paediatric and adult endocrinology specialists together with experienced pituitary surgery and, eventually, radiotherapy units are recommended for referral of these patients. [ABSTRACT FROM AUTHOR]

Introduction: Type 1 pseudohypoaldosteronism (PHA) consists of resistance to aldosterone. Neonatal presentation is characterized by salt wasting, hyperkalemia, and metabolic acidosis with high risk of mortality. Type 1 PHA can be autosomal dominant (renal type 1) or autosomal recessive (systemic type 1). Renal PHA type 1 can be feasibly managed with salt supplementation; however, systemic PHA type 1 tends to have more severe electrolyte imbalance and can be more refractory to treatment. Case Presentation: We present a case of a 3-year-old girl with systemic PHA type 1, diagnosed and confirmed molecularly in infancy, who has been successfully managed with sodium polystyrene sulfonate decanted into feeds along with sodium supplementation. On day 5 of life, a full-term female infant presented to the ED for 2 days of non-bloody, non-bilious emesis, along with hypothermia to 94°F. Laboratory results were notable for hyponatremia (Na) of 127, hyperkalemia (K) of 7.9, and acidosis with bicarbonate level of 11.2. Genetic testing ordered within a week of life confirmed PHA type 1 with a homozygous pathogenic frameshift variant in SCNN1A c.575delA (p.Arg192GlyfsX57). Sodium polystyrene sulfonate and feeds were decanted until the age of 16 months, and she was also continued on NaCl supplementation. She was gradually transitioned to directly administered sodium polystyrene sulfonate without any electrolyte issues. She has overall done well after gastrostomy-tube (G-tube) placement without severe hyperkalemia even with several hospitalizations for gastrointestinal or respiratory illnesses. Discussion/Conclusion: A treatment approach to systemic PHA and sodium polystyrene sulfonate administration in neonates and infants is described. [ABSTRACT FROM AUTHOR]

Background: Type 1 diabetes mellitus (T1D), characterized by chronic hyperglycemia and insulin dependence, is caused by the autoimmune destruction of β-cells in the pancreas. Diabetes mellitus can potentially lead to excessive accumulation of fat in the liver, resulting in fatty liver. Changes in pancreatic tissue during the course of the disease can lead to decreased insulin secretion and increased insulin resistance. Objectives: This study aimed to investigate the size and fat content of the liver and pancreas in children with T1D using ultrasound and to explore their relationship with clinical and laboratory indicators. Patients and Methods: In this case-control research, 43 children without diabetes made up the control group, whereas 43 children with T1D (diagnosed based on American Diabetes Association criteria) between the ages of 3 and 18 years made up the case group, from March 2020 until July 2021. A checklist was used to collect data on age, the duration of diabetes, insulin dose, gastrointestinal or liver symptoms, and autoimmune diseases. Moreover, the height and weight of patients were measured. The results of blood tests, including hemoglobin A1C (HbA1c), liver function tests, and autoantibodies related to diabetes, were extracted from the flies. A transabdominal ultrasound study was performed by two pediatric radiologists, with 8 years and 5 years of experience, to evaluate the liver and pancreas regarding size and fat content. Correlation between laboratory test results and ultrasound findings was assessed by statistical analysis. Data were analyzed using SPSS v26 with a significance level considered less than 0.05. T-test, Fisher's exact test, and Partial correlation were the tests applied for data analysis. Results: The two groups had significant differences in aspartate aminotransferase (AST), alanine transaminase (ALT), alkaline phosphatase (ALP), bilirubin, and HbA1c levels, with higher values observed in diabetic subjects. There was no statistical difference between the two groups in terms of liver size. The frequency of fatty liver was higher in patients with T1D (65.1% in diabetic subjects versus 233% in non-diabetic subjects). The size of the body and tail of the pancreas in the case group was significantly lower than in the control group (1033 ± 2.87 vs. 12.30 ± 2.1, P = 0.004 for the body, 9.47 ± 2.4 vs. 10.86 ± 2.2, P = 0.007 for the tail). Fatty pancreas was more prevalent in T1D compared to the control group (P = 0.03). The size and grade of fatty pancreas did not significantly correlate with the presence of autoantibodies. Liver size and body mass index were positively correlated (P=0.03). Conclusion: Patients with T1D are more susceptible to nonalcoholic fatty liver disease (NAFLD). Pancreatic morphological alterations, including increased echogenicity and a decrease in the size of the pancreas (particularly at the body and tail), can be detected in ultrasound studies of children with T1D. Furthermore, no significant association was found between T1D autoantibodies and pancreatic morphological changes, suggesting that autoantibodies cannot be used to predict future pancreatic morphological alterations. [ABSTRACT FROM AUTHOR]

Background: Paediatric endocrinology became recognised in Western European countries in the 1960s and 1970s. It is now a thriving paediatric sub-speciality in many countries but remains non-existent or in its infancy in others. We have had the privilege to work in Western centres of excellence, and this review outlines the key stages in the development of modern centres, discussing the human and organisational issues that have underpinned progress in the establishment of this paediatric sub-speciality. Summary: Human determination, vision, and ambition to create a modern centre and become a national flag bearer in the field are key components of success. The realisation that learning by spending time as a fellow away from one's home institution, so that knowledge can be acquired and brought back home, is also a key factor. Career structures should be designed to mentor and guide the trainee returning from a fellowship abroad. Scientific societies such as the European Society for Paediatric Endocrinology (ESPE) are key resources for networking, support, and discussion with experienced colleagues who may have faced similar challenges. Training and acquisition of knowledge through on-site or e-learning initiatives are beneficial and numerous examples exist, including the telemedicine model of store-and-forward consultations. Leadership skills can be learnt, and good working relationships with adult endocrinology colleagues result in benefits and political support. Key Messages: The development of paediatric endocrinology in a region with hitherto no such facilities constitutes a major contribution to local, regional, and, in all likelihood, national patient care. [ABSTRACT FROM AUTHOR]

Introduction: Turner syndrome (TS) is associated with primary ovarian insufficiency (POI) and most adolescents and young adults (AYA) with TS require treatment with hormone replacement therapy (HRT). International consensus guidelines are unclear on the optimal formulation and dosing for HRT after pubertal induction. This study assessed current HRT practice patterns of endocrinologists and gynecologists in North America. Methods: Email listserv members of the North American Society for Pediatric and Adolescent Gynecology (NASPAG) and the Pediatric Endocrine Society (PES) were invited to complete a 19-question survey to assess HRT treatment preferences for the management of POI after completion of pubertal induction in AYA with TS. Descriptive analysis and multinomial logistic regression to predict factors associated with preferred HRT are presented. Results: 155 providers (79% pediatric endocrinology, 17% pediatric gynecology) completed the survey. Although 87% (135) reported confidence in prescribing HRT, only half (51%, 79) were aware of published guidelines. Factors significantly associated with preferred HRT included specialty (p = 0.032) and number of patients with TS seen every 3 months (p = 0.024). Gynecologists were 4 times less likely than endocrinologists to prefer hormonal contraceptives and 4 times more likely to favor transdermal estradiol dose of 100 μg/day as compared to lower doses. Conclusion: Although most endocrinologists and gynecologists report confidence in prescribing HRT to AYA with TS after pubertal induction, there are clear differences in provider preferences based on specialty and higher volume of patients with TS in their practice. Additional studies on comparative effectiveness of the HRT regimens and evidence-based guidelines are necessary for AYA with TS. [ABSTRACT FROM AUTHOR]

Pediatric thyroid cancer represents 2.3 % of thyroid cancers, and its long-term outcome data are sparse. There have not been studies in the UAE delineating its epidemiology, clinical and histological characteristics, and follow-up outcomes. We aimed to evaluate the clinical–pathological behavior, recurrence and survival rates in pediatrics with all types of thyroid cancer in the UAE. Multicentre retrospective chart review analysis of pediatric patients with thyroid carcinoma from January 2010 to December 2020 in Abu Dhabi, UAE. Thirty-four patients were included, 85 % being females. Papillary thyroid carcinoma (PTC) was the commonest type of thyroid cancer (88 %) vs. follicular thyroid carcinoma (FTC) (11.8 %). Almost half of our patients had a multifocal disease, 26 % had lymphovascular invasion (LVI), and 21 % had extrathyroidal extension (ETE). There were no mortalities during follow-up. 85 % of patients exhibited complete remission, while 15 % of patients showed evidence of progressive residual or recurrent disease. One patient had metastasis to lymph nodes and lungs. There were similar trends of incidence, sex prevalence, and histopathological patterns as the ones observed internationally. Potential risk factors in our population include a family history of thyroid cancer and obesity. The lower rate of ETE, LVI, metastasis, and recurrence indicates a possibly less aggressive disease. [ABSTRACT FROM AUTHOR]

The Milestones were initiated by the Accreditation Council for Graduate Medical Education (ACGME) to provide a framework for monitoring a trainee's progression throughout residency/fellowship. The Milestones describe stepwise skill progression through six core domains of clinical competency: Patient Care, Medical Knowledge, Interpersonal and Communication Skills, Practice-based Learning and Improvement, Professionalism, and Systems-based Practice. Since their introduction in 2013, several barriers to implementation have emerged. Thus, the ACGME launched the Milestones 2.0 project to develop updated specialty-specific milestones. The Pediatric Endocrinology Milestones 2.0 project aimed to improve upon Milestones 1.0 by addressing common limitations, providing resources for faculty to easily incorporate milestones into their assessment of trainees, and adding sub-competencies in health disparities, patient safety, and physician well-being. This paper reviews the development of the Pediatric Endocrinology Milestones 2.0 including the major changes from Milestones 1.0, development of the Supplemental Guide, and how Milestones 2.0 can be applied at the program level. Although use of the Milestones are required only for ACGME programs, the tools provided in Milestones 2.0 are applicable to fellowship programs worldwide. [ABSTRACT FROM AUTHOR]

Objectives: The aims of this study were to determine the skeletal, dental, and sexual maturation stages of individuals at the peak of the pubertal growth spurt and to analyze the correlations between these parameters. Methods: The study included 98 patients, 49 females (mean chronological age 12.05 ± 0.96 years) and 49 males (mean chronological age: 13.18 ± 0.86 years), in the MP3cap stage. Skeletal maturation stages were determined using the cervical vertebral maturation (CVM) method on lateral cephalometric radiographs. The Demirjian index was used to determine dental maturation stages and dental ages on panoramic radiographs. The sexual maturation of the patients was evaluated in the pediatric endocrinology clinic by a pediatrician according to the Tanner stages. The frequencies of the variables were determined, and the Spearman rank correlation coefficients were used to analyze the correlations between the variables. Results: It was determined that the cervical vertebral maturation stage was CS3 in 81.6% (n = 40) of both female and male patients, and 81.6% of the female and 89.8% of the male patients were in stage G in terms of mandibular second molar tooth development. According to the Tanner pubic hair staging, 73.5% of the male and 51.0% of the female patients were in Stage 3. A significant correlation was found between the cervical vertebra stages and mandibular second molar tooth development stages in both sexes and between the cervical vertebra and Tanner pubic hair stages only among the male patients (r = 0.357; p <.05). There was also a significant and strong correlation between the Tanner pubic hair stages and breast development stages (r = 0.715; p <.05). Conclusion: Cervical vertebral development in the CS3 stage and mandibular molar tooth development in the G stage can be considered the peak of the pubertal growth spurt. Tanner Stage 3 marks the peak of the pubertal growth spurt in males. [ABSTRACT FROM AUTHOR]

A Pediatric Endocrine Society (PES) Drugs and Therapeutics Committee workgroup sought to determine the prescribing practices of pediatric endocrinologists when treating children <10 years of age with congenital adrenal hyperplasia (CAH). Our workgroup administered a 32-question online survey to PES members. There were 187 respondents (88.9% attending physicians), mostly from university-affiliated clinics (~80%). Ninety-eight percent of respondents prescribed the short-acting glucocorticoid hydrocortisone to treat young children, as per the Endocrine Society CAH Guidelines, although respondents also prescribed long-acting glucocorticoids such as prednisolone suspension (12%), prednisone tablets (9%), and prednisone suspension (6%). Ninety-seven percent of respondents indicated that they were likely/very likely to prescribe hydrocortisone in a thrice-daily regimen, as per CAH Guidelines, although 19% were also likely to follow a twice-daily regimen. To achieve smaller doses, using a pill-cutter was the most frequent method recommended by providers to manipulate tablets (87.2%), followed by dissolving tablets in water (25.7%) to create a daily batch (43.7%) and/or dissolving a tablet for each dose (64.6%). Thirty-one percent of providers use pharmacy-compounded hydrocortisone suspension to achieve doses of <2.5 mg. Our survey shows that practices among providers in the dosing of young children with CAH vary greatly and sometimes fall outside of the CAH Guidelines—specifically when attempting to deliver lower, age-appropriate hydrocortisone doses. [ABSTRACT FROM AUTHOR]

This document is a critical review of upcoming new therapeutic options in pediatric endocrinology. It discusses various novel and innovative medicines and procedures that are being developed or have recently become available for treating children and adolescents with endocrine disorders and diabetes. The review highlights the advantages of these new treatments but also raises caution about certain efficacy and safety-related aspects, particularly in the long term. The document covers a range of topics, including growth hormone deficiency, congenital adrenal hyperplasia, Cushing syndrome, hypogonadism, bone disorders, obesity, type 1 diabetes, and gene therapy. The authors express their gratitude to the contributors and hope that readers will find this special issue informative. [Extracted from the article]

This document is an editorial published in the journal Frontiers in Endocrinology. The editorial discusses a research topic called "Stars and Rising Stars in Pediatric Endocrinology: 2022." It highlights various research works in the field of endocrinology, including the genetics of rare endocrine disorders, novel applications of diabetes technology, and a new theory of dyslipidemia. The articles cover topics such as improving diagnostic approaches to endocrine disorders, expanding the understanding of classic disease phenotypes, and the impact of COVID-19 on sexual maturation. The editorial concludes that these articles will have a lasting impact on the future of endocrinology. [Extracted from the article]

Purpose The incidence of endocrine sequelae following central nervous system (CNS) infections in pediatric age is not known. We conducted this scoping review to assess the incidence of endocrinological alterations in patients with prior CNS infections in pediatric age. Methods Our screening process included both randomized and non-randomized controlled trials. All types of observational studies, prospective and retrospective, have been included. Results Ten studies were included in our review. The cumulative number of patients in all of the studies was 211, the mean age of the population study was 4.9 (±5 years). The included papers described the following acute CNS infections: meningitis (nine studies reported eighty-five cases) and encephalitis (three studies described sixty-five cases). Two case reports and one retrospective study reported hypopituitarism as a consequence of Mycobacterium tuberculosis CNS infection. In five studies the patients developed endocrine comorbidities at the time of infection. Another study analyzed 49 young adults who previously had tuberculous meningitis at a mean age of 5.9 ± 5.0 years: seven patients had growth hormone deficiency, four of whom also had gonadotropin deficiency; the other three had gonadotropin deficiency, corticotropin deficiency, and mild hyperprolactinemia. Conclusion Standardized multidisciplinary follow-up and research of patients with prior CNS infection is crucial. Although pituitary reserve screening is not commonly performed in these patients, clinical and research centers should set up an endocrinological evaluation with monitoring of auxological parameters to detect the signs and symptoms of hypopituitarism early and to initiate the appropriate care in children with previous CNS infections.

Background: Individuals with hyperinsulinemia may initially not meet any diagnostic criteria for metabolic syndrome, though displaying a higher risk of cardiovascular complications combined with obesity, diabetes, and hypertension. Aim: The main objective of our study was to assess the diagnostic accuracy of various cardiovascular risk indices in hyperinsulinemic children and adolescents; a secondary objective was to estimate the optimal cut-offs of these indices. Patients and methods: This retrospective single-center study was conducted on 139 patients aged 12.1 ± 2.9 years, managed for hyperinsulinism. Results: We found statistically significant differences in homeostasis model assessment of insulin resistance index (HOMA-IR), triglyceride glucose index (TyG), TyG-body mass index, visceral adiposity index, lipid accumulation product index, fatty liver index, and hepatic steatosis index. At the linear logistic regression assessment, we found that insulin growth factor-1 (IGF-1), HOMA-IR, and ALT/AST ratio were independently associated with confirmed hyperinsulinism. At the multivariate analysis, IGF-1 levels over 203 ng/mL and HOMA-IR higher than 6.2 were respectively associated with a 9- and 18-times higher odds ratio for hyperinsulinism. The other investigated parameters were not significantly related to hyperinsulinism, and could not predict either the presence of hyperinsulinemia or a subsequent cardiovascular risk in our patients. Conclusion: Commonly used indices of cardiovascular risk in adults cannot be considered accurate in confirming hyperinsulinism in children, with the exception of HOMA-IR. Further studies are needed to verify the usefulness of specific cardiovascular risk indices in hyperinsulinemic children and adolescents.

IntroductionType 1 pseudohypoaldosteronism (PHA) consists of resistance to aldosterone. Neonatal presentation is characterized by salt wasting, hyperkalemia, and metabolic acidosis with high risk of mortality. Type 1 PHA can be autosomal dominant (renal type 1) or autosomal recessive (systemic type 1). Renal PHA type 1 can be feasibly managed with salt supplementation; however, systemic PHA type 1 tends to have more severe electrolyte imbalance and can be more refractory to treatment.Case PresentationWe present a case of a 3-year-old girl with systemic PHA type 1, diagnosed and confirmed molecularly in infancy, who has been successfully managed with sodium polystyrene sulfonate decanted into feeds along with sodium supplementation. On day 5 of life, a full-term female infant presented to the ED for 2 days of non-bloody, non-bilious emesis, along with hypothermia to 94°F. Laboratory results were notable for hyponatremia (Na) of 127, hyperkalemia (K) of 7.9, and acidosis with bicarbonate level of 11.2. Genetic testing ordered within a week of life confirmed PHA type 1 with a homozygous pathogenic frameshift variant in SCNN1A c.575delA (p.Arg192GlyfsX57). Sodium polystyrene sulfonate and feeds were decanted until the age of 16 months, and she was also continued on NaCl supplementation. She was gradually transitioned to directly administered sodium polystyrene sulfonate without any electrolyte issues. She has overall done well after gastrostomy-tube (G-tube) placement without severe hyperkalemia even with several hospitalizations for gastrointestinal or respiratory illnesses.Discussion/ConclusionA treatment approach to systemic PHA and sodium polystyrene sulfonate administration in neonates and infants is described.

Introduction: This study aimed to explore the impact of gonadotropin-releasing hormone agonists (GnRHa) on final adult height (FAH) in girls with early and fast puberty. Methods: A retrospective study was conducted by reviewing data from the medical records of the Pediatric Endocrinology Clinics between January 1, 2010, and December 31, 2020, at MacKay Children's Hospital. The treatment group included 109 patients who received 3.75 mg monthly for at least 1 year, whereas the control group consisted of 95 girls who received no treatment. Results: The treatment group was significantly older at the time of inclusion (chronological age (CA1), treatment vs. control, 8.7 vs. 8.4 years, p < 0.001), had a more advanced bone age (BA) (BA1, 11.5 vs. 10.8 years, p < 0.001), BA1-CA1 (2.7 vs. 2.2 years, p < 0.001), and shorter predicted adult height (PAH1) (153.3 vs. 157.1 cm, p = 0.005) that was significantly lower than their target height (Tht) (PAH1-Tht, -3.9 vs. -1.3 cm, p = 0.039). The FAHs of the GnRHa and the control group were similar (157.0 vs. 156.7 cm, p = 0.357) and were not significantly different from their Tht (FAH vs. Tht in the GnRHa group, 157.0 vs. 157.0 cm; control group, 156.7 vs. 157.0 cm). In the subgroup analysis, FAH was significantly higher after GnRHa treatment in those with PAH1 less than 153 cm and Tht (154.0 vs. 152.0 cm, p = 0.041), and those whose CA1 was between 8 and 9 years (158.0 vs. 155.4 cm, p = 0.004). We defined satisfactory FAH outcome as FAH- PAH1>5 cm and significant factors were GnRHa therapy, PAH1 shorter than their Tht, age younger than 9 years, and faster growth velocity during the first year. Discussion: GnRHa is effective in restoring the Tht in some early and fast pubertal girls, especially in those with poorly PAH (PAH lower than 153 cm and shorter than their target height). A younger age at initiation of treatment and a faster growth velocity during treatment are associated with a better height gain. [ABSTRACT FROM AUTHOR]

Introduction: The standard of care for pediatric growth hormone deficiency (pGHD) is once-daily recombinant human growth hormone (rhGH). Somatrogon, a long-acting rhGH, requires less frequent, once-weekly, dosing. We describe physicians’ preference for, experiences, and satisfaction with once)weekly somatrogon vs once-daily rhGH. Methods: English-speaking investigators from somatrogon’s global phase III study (NCT02968004) with prior experience using once-daily rhGH were included. Participants answered an online survey containing 14 closed- and open-ended items. Results: Twenty-four pediatric endocrinologists (41.7% men; 79.2% practiced at public/private hospitals) from 12 countries with 25.8 ± 12.0 years’ experience treating pGHD completed the survey. In terms of the time and effort required to explain device instructions, injection regimen, procedure for missed injection, and address patients’/caregivers’ concerns, a similar proportion of physicians chose once-weekly somatrogon and once-daily rhGH; 62.5% physicians indicated that once-daily rhGH required greater effort to monitor adherence. Overall, 75% preferred once-weekly somatrogon over once-daily rhGH, 79.2% considered once-weekly somatrogon to be more convenient and less burdensome, and 83.3% were likely to prescribe somatrogon in the future. Overall, 50% felt that once-weekly somatrogon was more beneficial to patients, while 50% chose “No difference”. Most physicians (62.5%) felt both regimens were equally likely to support positive long-term growth outcomes and reduce healthcare utilization. More physicians were “very satisfied” with once-weekly somatrogon (62.5%) than with once-daily rhGH (16.7%). Reduced injection frequency, patient and caregiver burden, increased convenience, and improved adherence were reasons for these choices. Conclusion: Physicians had a positive experience with, and perception of, treating pGHD with once-weekly somatrogon. [ABSTRACT FROM AUTHOR]

β-Thalassemia is characterized by the abnormal synthesis of β-hemoglobin chains resulting in hemolytic anemia. Treatment involves frequent blood transfusions, which leads to deposition of iron in many organs, including endocrine glands. To date, several cases of papillary thyroid cancer (PTC) in patients with β-thalassemia have been reported in the adult literature, but there have been none in pediatrics. Here we report on an female adolescent with β-thalassemia who initially presented for evaluation of secondary amenorrhea. On examination, her thyroid gland was asymmetric, firm in consistency, with palpable lymph nodes along the right anterior cervical chain. A thyroid ultrasound revealed an enlarged right lobe containing 3 focal hypoechoic masses with calcific foci. Biopsy was consistent with PTC. She underwent total thyroidectomy and histological examination confirmed the diagnosis. Her postoperative course was uncomplicated and she was started on replacement therapy with levothyroxine. This is the first reported case of PTC in a pediatric patient with β-thalassemia. The incidence of thyroid cancer in patients with β-thalassemia is currently unknown; however, there may be utility in routine surveillance of this patient population. [ABSTRACT FROM AUTHOR]

The present study aimed to determine the rate of vitamin D deficiency in children who presented to the pediatric endocrinology outpatient clinic in Bolu and to investigate the factors affecting vitamin D levels. Vitamin D levels of 1008 children and adolescents were retrospectively analyzed according to age group (0–1, 1–10, and 10–18 years), gender, season, month, obesity and other diseases, and deficiency category. Moreover, calcium, phosphorus, alkaline phosphatase, and parathyroid hormone levels were evaluated. Comparisons and correlation analyses between related groups were performed. The mean vitamin D level of the patients was 16.35±9.56 ng/mL and was lower in girls (14.90±9.56 ng/mL) than in boys (18.68±9.63 ng/mL, p <0.001). Overall, 18.3% of the children and adolescents had vitamin D insufficiency, 52.3% had vitamin D deficiency, and 3.5% had severe vitamin D deficiency. Vitamin D levels were lower in 10–18-year age group than in the other age groups (p <0.001), and levels were higher in summer and autumn than in winter and spring (p <0.001). Vitamin D levels of participants with obesity (14.3 ± 8.3 ng/mL) were significantly lower than normal-weight participants with no health problems (15.9 ± 8.3 ng/mL, p = 0.004). There was a negative correlation between vitamin D, alkaline phosphatase, and parathyroid hormone levels in the 1–10-year age group, but a positive correlation between vitamin D, alkaline phosphatase, and calcium levels in the 10–18-year age group. The rate of vitamin D deficiency is high among children and adolescents who presented to the endocrine outpatient clinic in Bolu. The season appears to be an important factor affecting vitamin D levels as well as the relationship between vitamin D and parathyroid hormone. Obese children and adolescents living in this region may be advised to take vitamin D supplements in winter and spring. [ABSTRACT FROM AUTHOR]