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To manage of 21-hydroxylase deficiency (21-OHD), transition medicine from pediatric to adult health care is an important process and requires individually optimized approaches. We sent cross-sectional questionnaire surveys on the current status of transition from pediatric to adult health care in 21-OHD patients to all councillors of the Japanese Society for Pediatric Endocrinology. Many pediatric departments (42.2%) experienced adult 21-OHD patients, and 115 patients (53 males, mean age of 26) in 46 institutions were identified. Whereas almost two-thirds of pediatric endocrinologists regarded the problems of counterparts and cooperation as hindrance of transition medicine, the major reason for continuing to be treated in pediatrics was the patient's own request. The prevalence of long-term complications including obesity, osteoporosis, infertility, menstrual disorder, gender dysphoria, and testicular adrenal rest tumor were 27.5%, 8.8%, 11.1%, 26.3%, 7.1%, 12.5%, respectively, which is comparable to those of other cohorts previously reported. However, several items, especially infertility and osteoporosis were not checked well enough in adult 21-OHD patients treated in pediatrics. Though 44 of 62 female patients had genital reconstructive surgery, more than half of them were not followed up by gynecologists or pediatric urologists. Quite a few adult 21-OHD patients had been followed up in pediatrics even after coming of age; however, surveillance by pediatric endocrinologists of gynecological, reproductive, and mental problems may be insufficient. Therefore, multidisciplinary approaches should be required in transition medicine for 21-OHD and prerequisite for graduation of pediatrics. Pediatric endocrinologists will need to play a leading role in the development of transition systems.

Objective: To evaluate the prevalence of autoimmune thyroid disease (AITD) in diabetic children in south Punjab. Methods: This was an observational cross sectional study from Jan 2019 to Dec 2019 in the outpatient diabetic clinic of the department of pediatric endocrinology at Children Hospital and The Institute of Child Health Multan. A total of 161 consecutive patients of both genders with TIDM were enrolled in this study after taking informed consent. Blood samples for Thyroid functions testes including thyroid stimulating hormone (TSH), free thyroxin (fT4), Thyroid peroxidase antibody (TPO-Ab), thyroglobulin antibody (TG-Ab) and glycosylated hemoglobin (HbA1C) level were sent. Results: Among diabetic children males were 83 (51.6%). Age range was 2-15 years. Mean age and standard deviation was 9.7± 4.3. TPO-Ab was positive in 34 patients (21.1%) and TG-Ab in 27 patients (16.7%), whereas both antibodies were positive in 17 patients (10.5%). Six patients (3.7%) had evidence of subclinical hypothyroidism, 8 patients (4.9%) had overt hypothyroidism and 1 patient (0.62%) had hyperthyroidism Conclusion: The prevalence of AITD among children and adolescents with type 1 diabetes mellitus was 21.1% in our study. Hypothyroidism was more prevalent in these children compared to hyperthyroidism. All diabetic children should be screened for AITD. Thyroid functions should be checked where TPO antibody is positive. Keywords: Autoimmune thyroid disease, anti thyroid peroxidase antibody, anti thyroglobulin Continuous...

Context Nationwide data on children diagnosed with craniopharyngioma (CP) are not available in Italy. Objective This work aimed to identify patients’ characteristics, type of surgical approach, complications and recurrences, number of pituitary deficits, and number of patients starting growth hormone (GH) treatment. Methods A retrospective multicenter collection took place of 145 patients aged 0 to 18 years who underwent surgery for CP between 2000 and 2018, and followed up in 17 Italian centers of pediatric endocrinology. Results Age at diagnosis was 8.4 ± 4.1 years. Duration of symptoms was 10.8 ± 12.5 months and headache was most frequent (54%), followed by impaired growth (48%) and visual disturbances (44%). Most lesions were suprasellar (85%), and histology was adamantinomatous in all cases but two. Surgical approach was transcranial (TC) in 67.5% of cases and transsphenoidal (TS) in 31.%. The TC approach was prevalent in all age groups. Postsurgery complications occurred in 53% of cases, with water-electrolyte disturbances most frequent. Radiotherapy was used in 39% of cases. All patients but one presented with at least one hormone pituitary deficiency, with thyrotropin deficiency most frequent (98.3%), followed by adrenocorticotropin (96.8%), arginine vasopressin (91.1%), and GH (77.4%). Body mass index (BMI) significantly increased over time. A hypothalamic disturbance was present in 55% of cases. GH therapy was started during follow-up in 112 patients at a mean age of 10.6 years, and 54 developed a recurrence or regrowth of the residual lesion. Conclusion CP is often diagnosed late in Italy, with TC more frequent than the TS surgical approach. Postsurgery complications were not rare, and hypopituitarism developed almost in all cases. BMI shows a tendency to increase overtime.

This article is the work product of the Continuous Ketone Monitoring Consensus Panel, which was organized by Diabetes Technology Society and met virtually on April 20, 2021. The panel consisted of 20 US-based experts in the use of diabetes technology, representing adult endocrinology, pediatric endocrinology, advanced practice nursing, diabetes care and education, clinical chemistry, and bioengineering. The panelists were from universities, hospitals, freestanding research institutes, government, and private practice. Panelists reviewed the medical literature pertaining to ten topics: (1) physiology of ketone production, (2) measurement of ketones, (3) performance of the first continuous ketone monitor (CKM) reported to be used in human trials, (4) demographics and epidemiology of diabetic ketoacidosis (DKA), (5) atypical hyperketonemia, (6) prevention of DKA, (7) non-DKA states of fasting ketonemia and ketonuria, (8) potential integration of CKMs with pumps and automated insulin delivery systems to prevent DKA, (9) clinical trials of CKMs, and (10) the future of CKMs. The panelists summarized the medical literature for each of the ten topics in this report. They also developed 30 conclusions (amounting to three conclusions for each topic) about CKMs and voted unanimously to adopt the 30 conclusions. This report is intended to support the development of safe and effective continuous ketone monitoring and to apply this technology in ways that will benefit people with diabetes.

Background: Short stature is one of the most common referrals to pediatric endocrinology clinics. Approximately 3% of children in any population are found to be short. Aim: This study aims to determine the etiology of short stature and their frequency of occurrence in 2–18 years old rural pediatric population and to classify the patients with short stature using anthropometric measurements. Materials and Methods: A total of 400 patients (age: 2–18 years) were diagnosed with short stature and admitted in pediatric ward. After meticulous history collection and complete physical examination, relevant investigations were performed in all the study subjects. Appropriate statistical analysis was carried out with the collected data. Results: Out of 400 study subjects, 70.50% were boys (male: female=2.33:1). Majority (n=241, 60.5%) of the affected children were in the age group of 2–

Background. Thyroid pathology in children and adolescents is a topical problem of endocrinology. The purpose was to study the incidence and structure of thyroid pathology in children and adolescents from data of 2012–2016. Mate­rials and methods. Under supervision in the department of pediatric endocrinology of the Republic Specialized Scientific and Practical Medical Centre of Endocrinology of the Ministry of Health of Republic of Uzbekistan in 2012 to 2016, there were 213 children and adolescents with different thyroid diseases. Results. Greater part was presented by patients with congenital hypothyroidism — 94 cases (44.1 %), then — nodular goiter — 35 persons (16.4 %), diffuse toxic goiter — 30 patients (14.0 %), and also diffuse non-toxic goiter degree I–II — 19 (8.9 %), autoimmune thyroiditis — 14 (6.5 %), multinodular goiter — 15 (7.0 %), acute strumitis — 2 (0.9 %), thyroid cancinoma — 2 (1.0 %). The patients underwent a different spectrum of surgical treatment, total thyroidectomy was performed in 14 (34 %), hemistrumectomy — in 10 (24 %) , extended thyroid lobectomy — in 6 (14.5 %) cases. Conclusions. The incidence of complications of major diseases in children and adolescents was as follows: delay in skeletal development — 17.8 %, delay in physical, sexual, mental, speech development — 25.8 %, physical, mental retardation — 20.4 %, delay in physical and sexual development — 15.6 %, physical development delay — 14.5 %.

The articles provide information and analysis of statistical indicators on the state of endocrinological care for children in 2020 in general in Ukraine and in some regions, their dynamics for 2014—2020. Providing data on staffing of the pediatric endocrinology service; the state of inpatient care for children with endocrine diseases; disability due to endocrine pathology, which has been carried out in recent years, is constantly growing, in particular diabetes, hypothyroidism and others; diseases and prevalence of malignant diseases of the endocrine glands in children. It is also possible to provide data from the register of children with active endocrine diseases, namely, diabetes mellitus, including its various forms, pathological short stature, the disorders of sex differentiation (DSD). The problematic issues of specialized care for children with diseases of the endocrine system are highlighted.It is estimated that according to the register of children with diabetes mellitus (DM) in 2020, 10,743 patients under the age of 18 were registered (14.26 per 10,000 children), including 10,598 children receiving insulin therapy (with DM Type 1, other types of diabetes requiring insulin treatment) (14.07), 51 — with DM type 2, 66 children with neonatal diabetes, of which 36 diagnoses are genetically confirmed, and MODY is genetically confirmed in 48 children. The prevalence of diabetes among children aged 0—18 years in 2020 increased compared to 2014 by 34.9 %.For patients with DSD conduct a detailed cytognetic examination in the leading genetic laboratories. Responding to the database of such children, to which 654 patients were includ, in particular with chromosomal DSD — 347 children (53.1 %, 303 patients with Turner syndrome); of 46, XY DSD — 102 patients (15.6 %); of 46, XX — 205 patients (31.3 %), as well as 185 children with DSD due to congenital adrenal hyperplasia.It is reported that in 2020, 1,630 children with short stature under the age of 18 who need treatment with growth hormone were registered in Ukraine, including 1,223 children with pituitary and pituitary-cerebral dwarfism, 255 children with Turner syndrome, 65 — with Russell—Silver syndrome, 43 — with Prader—Willi syndrome, 21 children with short stature, born small for their gestational age (SGA), as well as 22 children with dwarfism due to chronic renal failure. The number of such volumes increases by an average of 10 %. These children receive treatment with growth hormone drugs at the expense of the state budget.

ContextEarly initiation of continuous glucose monitoring (CGM) is advocated for youth with type 1 diabetes (T1D). Data to guide CGM use on time-in-range (TIR), hypoglycemia, and the role of partial clinical remission (PCR) are limited.ObjectiveOur aims were to assess whether 1) an association between increased TIR and hypoglycemia exists, and 2) how time in hypoglycemia varies by PCR status.MethodsWe analyzed 80 youth who were started on CGM shortly after T1D diagnosis and were followed for up to 1-year post diagnosis. TIR and hypoglycemia rates were determined by CGM data and retrospectively analyzed. PCR was defined as (visit glycated hemoglobin A1c) + (4*units/kg/day) less than 9.ResultsYouth were started on CGM 8.0 (interquartile range, 6.0-13.0) days post diagnosis. Time spent at less than 70 mg/dL remained low despite changes in TIR (highest TIR 74.6 ± 16.7%, 2.4 ± 2.4% hypoglycemia at 1 month post diagnosis; lowest TIR 61.3 ± 20.3%, 2.1 ± 2.7% hypoglycemia at 12 months post diagnosis). No events of severe hypoglycemia occurred. Hypoglycemia was rare and there was minimal difference for PCR vs non-PCR youth (54-70 mg/dL: 1.8% vs 1.2%, P = .04; ConclusionAs TIR gradually decreased over 12 months post diagnosis, hypoglycemia was limited with no episodes of severe hypoglycemia. Hypoglycemia rates did not vary in a clinically meaningful manner by PCR status. With CGM being started earlier, consideration needs to be given to modifying CGM hypoglycemia education, including alarm settings. These data support a trial in the year post diagnosis to determine alarm thresholds for youth who wear CGM.

Background: Type 1 diabetes is one of the most prevalent long-term diseases of childhood globally. Objective: This study aimed to evaluate a new biomarker such as preptin in patients with type 1 diabetes and to assess its relation to diabetic nephropathy. Patients and methods: This study was a case-control study that carried on 34 children and adolescents with type 1 diabetes mellitus in addition to 17 healthy children at the Pediatric Endocrinology Unit, Pediatric Department, Zagazig University Hospitals, from June 2020 to April 2021.All patients were subjected to laboratory investigations including fasting blood glucose levels, HbA1c, kidney function tests, lipid profile, serum albumin, urinary albumin, albumin creatinine ratio, glomerular filtration rate (GFR) and serum preptin. Results: This study showed that age, weight and BMI were significantly higher among group II with no significant difference between group I and II by LSD. Also, there was no significant difference among groups regarding gender or family history of DM. Conclusion: Serum preptin is significantly lower in patients with diabetic nephropathy compared with diabetic patients without nephropathy and healthy subjects.

Purpose To report the incidence of 4–12% of differentiated thyroid cancer (DTC) and up to 50% of benign thyroid nodular disease and to describe nodular thyroid disease in a multicentre pediatric population with PTEN mutations. Methods: Retrospective data of pediatric patients with PTEN mutations collected from tertiary Departments of Pediatric Endocrinology of Turin, Milan and Genua, Italy, in the period 2010–2020. Results Seventeen children with PTEN mutations were recruited in the study. Thyroid involvement was present in 12/17 (70.6%) subjects, showing a multinodular struma in 6/17 (35.3%), nodules with benign ultrasound features in 5/17 (29.4%) and a follicular adenoma in 1/17 (6%). No correlation was found between thyroid disease and gender, puberty, vascular manifestations, delayed development, or brain MRI abnormalities, while multiple lipomas were associated with thyroid disease (p = 0.03), as was macrocephaly. Standard Deviation (SD) score head circumference was 4.35 ± 1.35 cm in subjects with thyroid disease, 3 ± 0.43 cm (p = 0.02) in the group without thyroid disease. Thyroid involvement was present in all subjects with mutations in exon 6 (4/4) and exon 8 (3/3) of the PTEN gene (p = 0.02). Conclusion In the presented cohort, benign thyroid disorders were prevalent, with no evidence of DTC. A correlation was found between thyroid lesions and head circumference and the occurrence of multiple lipomas. Future studies in larger cohorts should assess whether risk stratification is needed when recommending surveillance strategies in children or young adolescents with PTEN hamartoma syndrome.

Introduction Glucagon-like peptide-1 receptor agonists(GLP-1RA) have been widely used in adults with type 2 diabetes (T2D) and obesity. We sought to evaluate the experience of pediatric endocrinology providers with GLP-1RA and factors that guide them on whether and how to prescribe these medications. Methods We surveyed themembers of the Pediatric Endocrine Society regarding the use of GLP-1RA in their practice. Results The respondents (n=102)were predominantly from academic centers (84%)and 75%reported using GLP-1RA in pediatric patients, mostly to treat T2D and obesity. Patient tolerance for the medication was reported to be the driving factor determining the duration of treatment. Gastrointestinal side effects were observed more commonly than local reactions or elevation of pancreatic enzymes. Lack of clinical experience was reported to be a major barrier for prescribing GLP-1RA, particularly among those with more than 5 years of clinical experience. Finally, liraglutide was used more often (93%) than other GLP-1RA. Conclusions The use of GLP-1RAhas increased in pediatric patients. Recent FDA approval of liraglutide for pediatric obesity will likely further increase its prescription rate. Providers should be vigilant about side effects and adjust the doses of GLP-1RA accordingly. More efforts should be made by professional societies to educate pediatric endocrinology providers about the proper use of GLP-1RA and enhance their confidence in prescribing these medications. This article is protected by copyright. All rights reserved.

Purpose Transition from pediatric to adult healthcare for adolescents and young adults with type 1 diabetes (T1D) increases the risk for poor outcomes. This study aimed to describe the circumstances and clinical practice patterns associated with this transition of care based on a nationwide survey of pediatric endocrinologists in Korea. Methods An electronic survey regarding the healthcare transition of T1D patients was administered to 143 pediatric endocrinologists registered in the Korean Society of Pediatric Endocrinology. Results The response rate was 50.2% (n=72). Among responders, 58.3% (n=42) were females, and 70.8% (n=51) worked in academic medical centers. The main reasons for transfer to adult care were request from a patient or family (69.6%) and age ≥18 years (42.0%). Impediments to transition were a long-lasting therapeutic relationship (72.9%) and lack of adult specialists in T1D care (62.9%). Communication between pediatric and adult endocrinologists was via nonstructured patient summary (68.6%) and telephone or email (27.1%). Responders reported that successful transition requires development of transition protocols (79.2%) and a multidisciplinary team approach for transition care (52.8%). Conclusions Transition care of T1D patients is a challenge to pediatric endocrinologists in Korea. Development of transition care protocols for healthcare providers and improvement of diabetes self-management skills for patients are needed.

Objective Many studies show that brain lesions are the main cause of central precocious puberty (CPP) in males. However, the association rate has not been reported in China. This study aimed to assess the frequency of both abnormal and likely pathologic brain lesions by magnetic resonance imaging (MRI) in Chinese boys with CPP. Design This is a retrospective cross-sectional single-centre study. Patients 396 CPP boys were recruited from 2011 to 2019 in Children's Hospital, Zhejiang University School of Medicine, and 129 were eligible for our study. Measurements Diagnosis age, bone age, weight (kg), height (cm), puberty stage, MRI results and levels of sexual hormone were analysed. Results The number of CPP boys is increasing from 2011 to 2019 in China. Brain MRI findings were normal in 83.7% of CPP boys. Only 21 (16.3%) CPP boys were found with abnormal MRI findings including hamartoma, pineal cyst and other minor changes. Conclusion In China, there is an increasing trend of male CPP over the last decade and the main cause is idiopathic, rather than pathogenic brain lesions. Further investigations about the aetiology for CPP with pathological brain lesions are needed.

1. Dorit Koren, MD, MTR* 2. Lynne L. Levitsky, MD* 1. *Division of Pediatric Endocrinology and Pediatric Diabetes Center, Department of Pediatrics, Massachusetts General Hospital, Boston, MA * Abbreviations: ADA: : American Diabetes Association DKA: : diabetic ketoacidosis FDA: : Food and Drug Administration FPG: : fasting plasma glucose HbA1c: : glycohemoglobin IR: : insulin resistance LGA: : large for gestational age MODY: : maturity-onset diabetes of youth NAFLD: : nonalcoholic fatty liver disease RISE: : Restoring Insulin Secretion SES: : socioeconomic status SGA: : small for gestational age T1D: : type 1 diabetes mellitus T2D: : type 2 diabetes mellitus TODAY: : Treatment Options for Type 2 Diabetes in Adolescents and Youth The incidence and prevalence of type 2 diabetes mellitus (T2D) are increasing in children and adolescents as a result of the worldwide pediatric obesity epidemic. It is important to distinguish type 1 diabetes mellitus, which is more common in children, from T2D because clinical phenotypes may overlap at presentation, but clinical course and treatment options differ considerably. Thus, it is crucial to diagnose this disease early and to choose appropriate treatment. In addition, prevention of T2D by directly addressing and preventing or ameliorating excess weight gain in young people is of great importance in primary care. After completing this article, readers should be able to: 1. Describe the pathophysiology and risk factors for type 2 diabetes mellitus (T2D) in children and adolescents. 2. Explain that there may be an overlap in the presentation between type 1 diabetes mellitus (T1D) and T2D: children with T1D may be overweight or obese, and children with T2D may present with ketosis or ketoacidosis. 3. Screen appropriate childhood populations for T2D. 4. Recognize that individuals with youth-onset T2D are at higher risk for diabetes-related complications than those with T1D and adults with T2D and, therefore, require careful longitudinal follow-up and treatment. The pediatric obesity pandemic of the past few decades has been accompanied by an increase in the incidence and prevalence of type 2 diabetes mellitus (T2D) in childhood, with a disproportionate disease burden in children of minority ethnic groups and low socioeconomic status (SES). (1) Childhood-onset T2D is associated with greater …

Background To characterize telemedicine use among pediatric subspecialties with respect to clinical uses of telemedicine, provider experience, and patient perceptions during the COVID-19 pandemic. Methods We performed a mixed-methods study of telemedicine visits across pediatric endocrinology, nephrology, orthopedic surgery, and rheumatology at a large children’s hospital. We used deductive analysis to review observational data from 40 video visits. Providers and patients/caregivers were surveyed around areas of satisfaction and communication. Results We found adaptations of telemedicine including shared-screen use and provider-guided parent procedures among others. All providers felt that it was safest for their patients to conduct visits by video, and 72.7% reported completing some component of a clinical exam. Patients rated the areas of being respected by the clinical staff/provider and showing care and concern highly, and the mean overall satisfaction was 86.7 ± 19.3%. Conclusions Telemedicine has been used to deliver care to pediatric patients during the pandemic, and we found that patients were satisfied with the telemedicine visits during this stressful time and that providers were able to innovate during visits. Telemedicine is a tool that can be successfully adapted to patient and provider needs, but further studies are needed to fully explore its integration in pediatric subspecialty care. Impact This study describes telemedicine use at the height of the COVID-19 pandemic from both a provider and patient perspective, in four different pediatric subspecialties. Prior to COVID-19, pediatric telehealth landscape analysis suggested that many pediatric specialty practices had pilot telehealth programs, but there are few published studies evaluating telemedicine performance through the simultaneous patient and provider experience as part of standard care. We describe novel uses and adaptations of telemedicine during a time of rapid deployment in pediatric specialty care.

In Japan, since the introduction of newborn screening for congenital adrenal hyperplasia in 1989, most patients with 21-hydroxylase deficiency (21OHD) have been treated with glucocorticoid from the neonatal period (1, 2). Although early initiation of glucocorticoid therapy from the neonatal period remarkably improved the outcomes of final height, the average final height in 21OHD patients is below the standard height observed in normal healthy adults by approximately –1 standard deviation (SD) (3, 4), and optimization of glucocorticoid therapy remains challenging (5,6,7, 8). Glucocorticoids have a strong potential for reducing linear growth, whereas undertreatment with glucocorticoids leads to androgen excess, precipitating pubertal development (5,6,7). Recent studies have revealed that the final height positively correlates with height at two years of age (9), and the lowest possible hydrocortisone (HC) dose for maintenance treatment during the first two years of life considered crucial for maximizing the final height of 21OHD patients. For maintenance therapy, 15–25 mg/m2 HC therapy is widely accepted (10). In contrast to maintenance HC therapy, the optimal HC dose for initial treatment has not been established. The consensus statement on 21OHD by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology (ESPE) suggests an HC dose of up to 25 mg/m2 for treatment initiation (11). Conversely, the Japanese Society for Pediatric Endocrinology (JSPE) recommended a considerably higher HC dose of HC (100–200 mg/m2) for the initial treatment (12), and in the revised guideline published in 2014, the recommended dose was lowered to 25–100 mg/m2, which is still higher than that recommended by the ESPE (13). A high initial HC dose may help normalize the elevated adrenal androgen levels during the neonatal and early infantile periods, followed by sufficient control by a lower maintenance dose. Our previous study has revealed that the height at two years of age in patients with 21OHD treated with a higher HC dose during initial therapy could be compared with those receiving lower HC doses (14). However, detailed differences between patients with 21OHD treated with higher and lower doses during initial HC therapy have not been assessed. In the present study, we aimed to evaluate the effects of initial HC treatments on clinical profiles during infancy and early childhood in patients with 21OHD.

Introduction: About 8% of children born small for gestational age (SGA) do not reach a final height within the normal range. Recombinant human growth hormone (rhGH) has been shown to be effective in increasing the final height in children born SGA. Our objective was to identify predictive factors of final height in children born SGA treated with rhGH. Materials and Methods: In this retrospective study, conducted in a tertiary pediatric endocrinology referral center, we recruited all patients born SGA (defined as birth length or weight Results: We included 252 patients with an average birth length of −2.0 ± 0.7 SD and birth weight of −1.7 ± 1.0 SD. After 4.6 ± 2.8 years of rhGH treatment, their height increased from −2.2 ± 0.9 SD to −1.5 ± 0.9 SD. In multivariate analysis, we identified 8 factors that predict 46% of the final height, namely, cause of SGA (p < 0.0001), GnRH analog therapy >2 years (p = 0.006), birth length (p < 0.02), height at the start of rhGH (p < 0.0001), IGF-1 level at the start of rhGH (p = 0.0002), growth velocity during the 1st year of treatment (p = 0.0002), and age and height at the onset of puberty (p < 0.0001, p = 0.0007, respectively). Conclusion: In this large cohort of SGA patients who had reached their final height, we were able to confirm that growth hormone increases final height in short SGA children. In addition, we identified several factors associated with a better response to growth hormone treatment.

Introduction: Short stature is a common concern that necessitates pediatric endocrinology evaluation. Growth hormone deficiency (GHD) is a commonly considered etiology. Brain and pituitary magnetic resonance imaging (MRI) with gadolinium-based contrast agents (GBCAs) is the most widely used imaging in assessing patients with GHD. Given the significant strides made in MRI technology, the need for contrast material should be reassessed. Method: We performed a retrospective review of healthy patients with short stature and/or GHD who underwent brain and pituitary MRI with and without contrast to assess the added value of contrast administration. Results: 227/318 identified patients underwent growth hormone (GH) stimulation testing; 28 (12.3%) with normal GH response and 62 (27.3%) with severe GHD. We found a low incidence of sellar and suprasellar pathologies. When comparing noncontrast and contrast MRI, we found perfect agreement in detecting abnormal posterior pituitary bright spots (kappa:1.0) and substantial agreement in detecting pars intermedia cysts and posterior superior sellar cysts (kappa: 0.74 and 0.71, respectively). Initially, only moderate agreement was found in detecting infundibular abnormalities (kappa: 0.51), although a revised noncontrast MRI protocol with high-resolution 3D images enabled visualization of the infundibulum. Conclusion: The MRI evaluation of healthy patients with short stature and/or isolated GHD may be completed without the use of GBCAs. The slight overestimation of pituitary stalk interruption by noncontrast images can be overcome by adding newer high-resolution sequences.

X-linked hypophosphatemic rickets (XLHR) is a genetic disease caused by inactivating pathogenic variants in PHEX, which results in reduced mineralization of bone, teeth, and renal phosphate wasting. XLHR is traditionally treated by phosphate and vitamin D analogs. Recently, burosumab, a recombinant anti-fibroblast growth factor-23 (FGF-23) monoclonal antibody was approved as specific XLHR therapy. We aimed to assess the awareness, knowledge, and management of XLHR among members of the Arab Society for Pediatric Endocrinology and Diabetes (ASPED). Of the 97 physicians who answered the online questionnaire, 97% were aware of XLHR, and while 90% screen family members of the index case, only 29% manage children with XLHR. In children with rickets, 40% of participants measure serum/urine phosphate routinely, and 31% request serum FGF-23 in suspected XLHR cases. Almost all responders use conventional XLHR therapy, and 4% used Burosomab. Only 14% were satisfied with the conventional treatment, and 69% reported therapeutic complications in up to 25% of their patients. Multidisciplinary care for XLHR is practiced by 94%, but 82% of providers did not have transition clinics. Pediatric endocrinologists in ASPED countries are aware of XLHR but have variable practice and are unsatisfied with its conventional treatment. Raising awareness of the recognition and modern management of XLHR is needed.

Context Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children. Objective To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI. Patients and Methods Data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected. Results The following etiologies were reported: 85% (n = 682) congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD); 3.1% (n = 25) X-linked adrenoleukodystrophy; 3.1% (n = 25) autoimmune polyglandular syndrome type 1; 2.5% (n = 20) autoimmune adrenal insufficiency; 2% (n = 16) adrenal hypoplasia congenital; 1.2% (n = 10) non-21-OHD CAH; 1% (n = 8) rare syndromes; 0.6% (n = 5) familial glucocorticoid deficiency; 0.4% (n = 3) acquired adrenal insufficiency; 9 patients (1%) did not receive diagnosis. Since 21-OHD CAH has been extensively characterized, it was not further reviewed. In 121 patients with a diagnosis other than 21-OHD CAH, the most frequent symptoms at diagnosis were fatigue (67%), hyperpigmentation (50.4%), dehydration (33%), and hypotension (31%). Elevated adrenocorticotropic hormone (96.4%) was the most common laboratory finding followed by hyponatremia (55%), hyperkalemia (32.7%), and hypoglycemia (33.7%). The median age at presentation was 6.5 ± 5.1 years (0.1-17.8 years) and the mean duration of symptoms before diagnosis was 5.6 ± 11.6 months (0-56 months) depending on etiology. Rate of adrenal crisis was 2.7 per 100 patient-years. Three patients died from the underlying disease. Adult height, evaluated in 70 patients, was −0.70 ± 1.20 standard deviation score. Conclusions We characterized one of the largest cohorts of children with PAI aiming to improve the knowledge on diagnosis of this rare condition.

Objectives Acanthosis nigricans is a skin symptom in obesity that helps to identify patients at high risk for dyslipidemia, hypertension, insulin resistance, and diabetes. It is the most important complication of obesity in metabolic syndrome. Studies investigating the relationship between acanthosis nigricans and metabolic syndrome in obese children are insufficient. In our study, the relationship of acanthosis nigricans and metabolic syndrome was evaluated in children. Methods Obese children aged between 6 and 18 years old, who were examined in the pediatric endocrinology outpatient clinic, were included. The patients’ anthropometric measurements and laboratory results were recorded. Modified IDF (International Diabetes Federation) criteria for children were used in metabolic syndrome classification. Results A hundred and forty-eight obese children were evaluated. The mean age of the cases was 11.91 ± 2.94 years old. Of the cases, 56.1% were female (n=83) 43.9% (n=65) were male. In 39.9% (n=59) of cases, acanthosis nigricans was determined. Acanthosis nigricans was mostly located in the axillary area (27.1%) and the neck (16.9%). In 55.9% of the cases, it was located in more than one area. The relation of regionally detected acanthosis nigricans and metabolic syndrome was not significant (p=0.291). Metabolic syndrome was detected in 14% of 136 patients according to IDF criteria. Acanthosis nigricans and metabolic syndrome combination was present in 27.7%; however, 6.7% of the metabolic syndrome patients did not have acanthosis nigricans. There was a strong relation between metabolic syndrome and the presence of acanthosis nigricans (p=0.003). Conclusions In our study, a correlation between acanthosis nigricans and metabolic syndrome was detected. Acanthosis nigricans is a skin sign that can be easily detected by clinician. It is an important and easy-to-detect dermatosis that helps determine patients at risk of metabolic syndrome in obese children.

The Committee on Dyslipidemia of Korean Pediatric and Adolescents of the Korean Society of Pediatric Endocrinology has newly developed evidence-based clinical practice guidelines for dyslipidemia in Korean children and adolescents. These guidelines were formulated with the Grading of Recommendations, which include both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. These guidelines are based on the 2011 National Heart, Lung, and Blood Institute Guidelines, which focus on the prevention of cardiovascular disease in children and draw from a comprehensive review of evidence. These guidelines contain the definition of and screening process for dyslipidemia and introduce new dietary methods: the Cardiovascular Health Integrated Lifestyle Diet (CHILD)-1, the CHILD-2-low-density lipoprotein cholesterol, and the CHILD-2-triglyceride. Potential drug therapies for dyslipidemia along with their main effects and doses were also included.

El objetivo del estudio fue caracterizar el perfil clínico del hipotiroidismo congénito en pacientes menores de 13 años de la Consulta de Endocrinología Pediátrica del Hospital Infantil Doctor Robert Reid Cabral. Se realizó un estudio descriptivo, observacional, de corte transversal con colección prospectiva de datos, donde fueron evaluados 22 pacientes y se revisaron sus expedientes clínicos, durante el período julio-diciembre 2017. Al concluir la investigación se pudo determinar que el 50 % de los pacientes fue diagnosticado con hipotiroidismo congénito antes de los tres meses de edad y el 18 % por encima de los 30 meses. La macroglosia y la hernia umbilical fueron las principales manifestaciones clínicas al momento del diagnóstico (40.9 %). La medición de la TSH fue utilizada en el 100 % de los casos. La ultrasonografía fue el estudio de imágenes más utilizado. En el 68.1 % de los pacientes con HC aún no se ha determinado la causa del HC. Dentro de los factores de riesgo presentes en la población de estudio sobresalieron los antecedentes familiares de enfermedad tiroidea y el síndrome de Down. El 59 % de los pacientes ha tenido una evolución clínica permanente. Los pacientes evaluados no presentaron déficit auditivo. En la evaluación psicológica se utilizó la prueba de Perfil de Desarrollo (DP3), realizada por el Departamento de Salud Mental del Hospital Infantil Doctor Robert Reid Cabral con entrevista directa a los padres, y el 40.9 % de los pacientes obtuvo nivel medio en la escala motriz, adaptativa, socioemocional y comunicativa de su desarrollo. El nivel cognitivo fue la función ejecutiva más afectada, fue muy bajo en el 45.4 % de los pacientes. El índice general de desarrollo fue muy bajo en el 45.4 %. El 75 % de los pacientes diagnosticados después de los 30 meses tuvo un índice general de desarrollo muy bajo. El 72.7 % de los pacientes diagnosticados antes de los primeros tres meses de vida tuvo un índice de desarrollo medio.

Objective: Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen cities. To evaluate the performance of the extended study and update previously reported outcomes. Methods: Retrospective, descriptive study. Neonates of >= 32 gestational weeks and >= 1500 gr birth weight from fourteen cities, born between May-December 2018, were included. Screening protocol included one sample, two-tier testing as applied in the previous pilot study. In the first step, 17 alpha-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. Cases with positive initial screening underwent second tier testing by steroid profiling in DBS using liquid chromatography-tandem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione. The babies with a steroid ratio (21-S+ 17-OHP)/F of >= 0.7 (increased from >= 0.5 in the earlier pilot study) were referred to pediatric endocrinology clinics for diagnostic assessment. Results: In the evaluated period, 241,083 newborns were screened. 12,321 (5.11 %) required second-tier testing and 880 (0.36 %) were referred for clinical assessment, twenty of whom were diagnosed with CAH (10 females, 10 males). Sixteen were diagnosed as classical 21-hydroxylase deficiency (21-OHD) CAH (12 with salt-wasting and four with simple virilising CAH), and four cases were identified with 11 beta-OHD CAH. No case of salt-wasting CAH was missed by neonatal screening (sensitivity was 100 %). The incidence of classical 21-OHD and 11 beta-OHD in the screened population was 1:15,067 and 1:60,270, respectively. Conclusion: Turkish neonatal CAH screening effectively led to earlier diagnosis of 21-OHD and 11 beta-OHD, using steroid profiling as a second-tier test. This will result in improved care of these patients in the future.

Management of type 1 diabetes mellitus for pediatric and young adult patients is well suited for telehealth. Diabetes management requires frequent communication with health care providers as well as the interpretation of many types of data that can be measured in the home and shared virtually to the provider by the patient. Telehealth technologies allow for a safe alternative and/or addition to in-person care for youth with diabetes. Telehealth increases access to health care, saves time and money, and results in improvements in rates of appointment adherence, patient satisfaction, and quality of life.

The prevention and treatment of osteoporosis in children is an urgent problem of pediatrics and pediatric endocrinology. This is due to the need for preventive measures for the formation of adequate bone mass and bone strength, the duration of rehabilitation during the development of the disease and the occurrence of fractures, as well as the requirements for optimizing the treatment of this pathology in childhood.Bone tissue is a dynamic and constantly updated system. The main regulators of osteogenesis include trace elements (calcium, phosphorus, zinc, fluorine, etc.), vitamin D, hormones (parathyroid hormone, calcitonin, growth hormone, corticosteroids, etc.), growth factors (IRF-1, IRF-2, ERF, FRF, etc.), local bone-resorbing factors (IL-1, IL-6, TNF, PGE, etc.) and mechanical stress. Remodeling processes continue throughout life, but are most intense until 18 years of age.The most important risk factors for developing osteoporosis are a history of prematurity and / or IUGR, rickets, low intake of protein, calcium and vitamin D, weight deficiency, periods of active growth, low physical activity, endocrine diseases (diabetes mellitus, growth hormone deficiency, hypogonadism, etc.), somatic pathology (chronic diseases of the kidneys, liver, malabsorption), taking certain medications (GCS, anticonvulsants, cytostatics, etc.). Clinical manifestations of osteoporosis in children include signs of tissue calcium deficiency (trophic changes in the nails, hair and tooth enamel, paresthesia, pain in the calf muscles) and a decrease in bone mineralization (impaired posture, slowed growth, pain in the spine and large joints, pathological low-energy fractures) Measures to prevent osteoporosis in childhood include regular physical activity, a balanced diet, adequate insolation, and the identification and treatment of somatic pathology. Additional pharmacological correction is carried out in risk groups – the recommended course use of preparations containing vitamin D, calcium and other osteotropic minerals.The treatment of osteoporosis in children and adolescents is actively debated. A mandatory component of therapy are calcium salts in combination with vitamin D. The possibility of using bisphosphonates is being examined, the effect of monoclonal antibodies (denosumab), somatropin and anabolic steroids on bone metabolism is being studied. In addition, non-pharmacological methods are prescribed - orthopedic correction for fractures, exercise therapy, gymnastics, therapeutic swimming and massage.

Growth hormone (GH) deficiency is caused by congenital or acquired causes and occurs in childhood or adulthood. GH replacement therapy brings benefits to body composition, exercise capacity, skeletal health, cardiovascular outcomes, and quality of life. Before initiating GH replacement, GH deficiency should be confirmed through proper stimulation tests, and in cases with proven genetic causes or structural lesions, repeated GH stimulation testing is not necessary. The dosing regimen of GH replacement therapy should be individualized, with the goal of minimizing side effects and maximizing clinical improvements. The Korean Endocrine Society and the Korean Society of Pediatric Endocrinology have developed a position statement on the diagnosis and treatment of GH deficiency. This position statement is based on a systematic review of evidence and expert opinions.

OBJECTIVE We explored the impact of TeKnO T1D, an online, case-based, spaced education curriculum about insulin pump and continuous glucose monitor (CGM) use in pediatric type 1 diabetes management. METHODS Pediatric endocrinology fellows (n = 64) were randomized to receive an educational curriculum focused on either insulin pumps or CGMs. Fellows received interactive questions twice weekly via email or mobile app. Median time to completion was 76.5 days. The primary outcome was change in knowledge as measured by performance on multiple-choice questions (MCQ) from the pre-test to the post-test. RESULTS Forty-eight of 64 (75%) learners completed the curriculum and assessments. The pump group improved from 35.0 ± 15% on the pre-test MCQs to 61.1 ± 17% on the post-test, a 12.2 absolute percentage point greater improvement on pump-specific items than the CGM group (P = .03). The CGM group improved from 30.3 ± 15% on the pre-test MCQs to 61.4 ± 21% on the post-test, a 28.7 absolute percentage point greater improvement on CGM-specific items than the pump group (P

1. Claci A. Walls* 2. W. Jackson Smith, MD† 3. John M. Draus, MD‡ 4. Lars M. Wagner, MD§ 1. *University of Kentucky College of Medicine, Lexington, KY 2. †Division of Pediatric Endocrinology, 3. ‡Division of Pediatric Surgery, and 4. §Division of Pediatric Hematology/Oncology, University of Kentucky College of Medicine, Lexington, KY A 15-year-old boy is evaluated for gynecomastia that has continued to increase in size and discomfort during the past year. In addition, he also has moderate to severe acne that has not improved with topical therapies and systemic antibiotic drugs. He reports having some general fatigue as well as increased appetite, and he has gained 13 lb (5.9 kg) in the previous 7 months. There has been no fever, and apart from occasional headaches, he has no other complaints of pain. His personal and family medical history is otherwise normal. His only medications are minocycline and topical isotretinoin and clindamycin to treat his acne. On physical examination the blood pressure is 156/98 mm Hg. He has extensive acne on his face, upper chest, and back. Examination of the breasts shows bilateral and mildly tender gynecomastia, with fibroglandular tissue measuring 10 cm in the right breast and 9 cm in the left, and both having secondary mounds (Fig 1). No galactorrhea is present. His abdominal examination findings are normal, and he has Tanner V genitalia with normal testes. Based on the history and physical examination findings, blood testing and subsequent imaging are performed and lead to the correct diagnosis. Figure 1. Demonstration of acne and gynecomastia in the 15-year-old boy described in the case. ### Diagnosis The combination of progressive gynecomastia coupled with extensive acne and hypertension in an adolescent male suggested excessive hormone production. This suspicion was confirmed by the finding of elevated serum estradiol, estrone, and dehydroepiandosterone sulfate (DHEA-S) levels ranging from 4 to 30 times the upper limit of normal. In addition, the patient had an elevated 24-hour …

The introduction of nusinersen, the first therapeutic modality for Spinal Muscular Atrophy (SMA) patients has raised hopes and led to construction of a multi-professional medical SMA service, including pediatric endocrinology. Our study aimed to provide a comprehensive description of the endocrine manifestations of SMA patients with variable degree of sarcopenia. Real-life clinical and laboratory data of 62 SMA patients (age range 3 months to 31 years, 24 type 1, 21 type 2, 17 type 3) were collected including: weight-status, self-reported information on puberty, current pubertal stage, Homeostatic Model Assessment of Insulin Resistance (HOMA-IR), basal gonadotropin and androgen levels. Precocious pubarche (mean age at onset 3.9 ± 2.8 years) was found in 24% (15/62) of the SMA cohort [45.9%(11/24) type 1 and 19%(4/21) type 2]. A higher HOMA-IR predicted precocious pubarche after adjustment for SMA type and age (OR=1.42; 95% CI, 1.05, 1.93, P = 0.025). Bilateral cryptorchidism was found in 60% of type 1 and 30% of type 2 boys; type 3 young adult males attained full puberty. Most of the young women had normal pubertal development and regular menses, regardless of degree of obesity. Our findings suggest that isolated precocious pubarche is associated with early-onset insulin resistance linked to severity of muscular atrophy.

Existing guidelines recommend long-term follow-up of childhood cancer survivors (CCS). However, in Japan, transitional care for CCS has not been established. To ascertain the current status in Japan, and to cultivate a better understanding, a questionnaire survey was conducted on transitional care in CCS, and adolescent and young adult (AYA) cancer survivors. Questionnaires were distributed to 183 councilors (137 institutions) of the Japanese Society for Pediatric Endocrinology. A total of 131 responses, representative of 174 councilors, were obtained. The response rate was 95%. Among the respondents, 91% had experience in medical care for cancer patients, while 63% had experience in transitional care; however, the number of patients referred to adult clinics was small. Further, 89% acknowledged the availability of adult endocrinologists who were willing to accept these patients; although their numbers were insufficient. Pediatric endocrinologists highlighted difficulties in medical examinations concerning infertility, obesity, pregnancy/delivery, and gonadal dysfunction, in that order. Staff and time shortages were listed as some of the challenges faced by medical staff, while multisystem morbidity was listed for patients. This nationwide questionnaire survey revealed that Japanese pediatric endocrinologists require cooperation between related departments and collaborative infrastructure to develop transitional care for cancer survivors.

X-linked hypophosphatemia (XLH) is the most common form of inherited hypophosphatemic rickets. Phosphate wasting results in weak, soft and deformed bones, impaired growth, and affected mobility. It is mainly caused by a loss of function mutation in PHEX gene that leads to elevated fibroblast growth factor-23 which mediates the phosphate wasting. During the 58th annual meeting of the European Society of Pediatric Endocrinology (ESPE) held in Vienna between September 19, 2019 and 21, 2019, nearly 100 free communications and a dedicated symposium focused on XLH. The authors attended the conference and wished to share its highlights pertaining to XLH and burosumab therapy to extend the benefit to other professionals who did not attend.

Introduction According to the current classification of the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Pediatric Endocrinology (ESPE) of Disorders of Sex Development (DSD), etiologies vary around the world. Ethnic or genetic diversity probably explains this variability. We therefore conducted the present study on etiologies of DSDs in a country from central Africa. Methods We carried out an observational retrospective study at the Pediatric Endocrinology Unit of the Mother and Child Centre of the Chantal Biya Foundation in Yaounde, Cameroon from May 2013 to December 2019. All patients diagnosed with a DSD were included, and incomplete files excluded. Results We included 80 patients diagnosed with DSD during the study period. The 46,XX DSD were the most frequent in our study population (n = 41, 51.25%), with congenital adrenal hyperplasia (CAH) as the main diagnosis. The 46,XY DSD accounted for 33.75% and sex chromosome DSD group represented 15% of the study population. Conclusions DSDs are not an exceptional diagnosis in a Sub-Saharan context. 46,XX DSD are the most prevalent diagnosis in our setting. The diagnosis of all these affections is late compared to other centers, justifying advocacy for neonatal screening of DSDs in our context.

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by enzymatic deficiencies in the biosynthesis of adrenal steroids. The most common 21-hydroxylase deficiency is characterized by a cortisol deficiency and an excess of androgens, with or without aldosterone deficiency. In our countries, in the absence of neonatal screening, the diagnosis is most often late leading to life-threatening complications. The aim of this study was to describe the diagnostic features of CAH at the Albert Royer National Children’s Hospital (ARNCH) in Dakar. Patients and method: We conducted a retrospective, descriptive study carried out at the pediatric endocrinology department of ARNCH from 2015 to 2019. All children aged under 15 with a form of CAH were included. Socio-demographic data, family history, clinical and biochemical data at presentation were collected. Patients were noted as presenting with Disorder of Sexual Development (DSD) with dehydration, DSD without dehydration, dehydration without DSD, precocious puberty. The Prader’s scale was used to determine the degree of external virilization. These data were entered and analyzed with Epi Info version 7.2. Results: A total of 32 patients were included, representing 74.41% of the causes of disorder of sexual development (DSD) and 84.21% of the causes of adrenal insufficiency. These were 27 girls (84.37%) and 5 boys (15.63%). The mean age was 19 ± 34.6 months. DSD was the main finding (87.5%). It was associated with dehydration in 22 cases (68.75%). 21-hydroxylase deficiency represented 93.75% of the cases with salt wasting in 73.33% of the cases. Conclusion: The diagnosis of CAH was delayed leading to life-threatening adrenal crises. In the absence of neonatal screening for CAH in Senegal, there is a need to train healthcare workers to recognize neonates with DSD early and refer them timeously for specialist care.

Purpose: Diabetes mellitus (DM) in pregnancy produces adverse outcomes with significant human and economic costs. Potential lifetime cost savings of preventative preconception counseling for women with diabetes may reach $4.3 billion (U.S.). Preconception education has been shown in prior research to improve knowledge of reproductive risks in an adolescent diabetic population and to improve future health outcomes. This study assessed the current extent of preconception DM-related reproductive risk education at a tertiary academic medical center to better inform the opportunity for a systematic quality improvement intervention. Methods: We reviewed the electronic medical records (EMR) of females (N=70), ages 16-19, seen in the Pediatric Endocrinology clinic (2013-2016) and diagnosed with type 1 DM, type 2 DM, or insulin resistance. Any reproductive risks education documentation by providers, nursing or educators within Pediatric Endocrinology, or within consults to Nutrition or Obstetrics and Gynecology was reviewed and characterized. Results: According to EMR documentation, patient education for nonreproductive medical needs and complications of DM were consistently present in this population: 96% of patients received general diabetes education with at least 4/8 components. However, documented education regarding DM reproductive risks occurred for only 18% of the same patients while contraceptive use discussion occurred for 20%. Conclusion: The potential benefits of preconception education may include achieving recommended glucose control preceding and during pregnancy with fewer downstream maternal and fetal adverse outcomes. Although limited by the single site, retrospective design and the unknown rate of reproductive education documentation failure, our findings reveal a performance gap of potential downstream medical significance. Recognizing this deficiency provides an opportunity for a population-based intervention to create improved health outcomes.

Introdución: la osteoporosis juvenil idiopática (OJI) es el término descriptivo aplicado a la osteoporosis de etiología desconocida en la edad pediátrica. Se caracteriza por la pérdida progresiva de la masa ósea y el deterioro de su microarquitectura, lo que lleva al aumento de la fragilidad ósea y a la mayor susceptibilidad de fracturas. El principal objetivo del tratamiento de los niños y adolescentes con densidad mineral ósea disminuida es la prevención de las fracturas óseas por fragilidad. Como medidas generales, se recomienda una alimentación equilibrada, con aporte óptimo de calcio y vitamina D y la promoción de la mayor actividad física posible. Objetivo: presentar un caso de OJI y enfatizar en aspectos del diagnóstico y tratamiento. Caso clínico: adolescente, femenina, de 17 años de edad, que acudió al Departamento de Endocrinología Pediátrica del Instituto Nacional de Endocrinología a la edad de 9 años por fracturas múltiples desde los 5 años, lo que se asociaba a dolores óseos. Ante la sintomatología se indicaron los complementarios correspondientes confirmándose el diagnóstico de OJI e indicándose tratamiento con calcio y vitamina D; se evidenció una evolución favorable con mejoría clínica y radiológica, sin necesidad de administrar tratamiento con bifosfonatos.

Central precocious puberty (CPP) is defined by the appearance of secondary sexual signs in girls younger than 8 years of age or the onset of menarche before the age of 10. Gonadotropin-releasing hormone analogs (GnRHa) are the most effective therapy in CPP. Drug-induced hypersensitivity vasculitis is an inflammation of blood vessels due to the use of several pharmacologic agents. We present the first pediatric case of vasculitis induced by Decapeptyl. 7 years and 3 months old girl admitted to Pediatric Endocrinology outpatient clinic with a complaint of premature breast development. The patient diagnosed CPP with her physical examination and laboratory findings and tripoteline acetate (Decapeptyl) treatment initiated. She experienced multiple rushes on her body with a mild abdominal pain and high temperature after 8 hours from the second dose of Decapeptyl administration. She hospitalized with the diagnosis of drug-induced vasculitis and single dose of iv metyl-prednisolone 1 mg/kg treatment and oral cetirizine initiated. Her blood and urine analysis revealed no other organ involvement rather than skin. On the third day, all the purpuric lesions started to resolve and completely disappeared on the 6th day. Hereby, we described first pediatric case of CPP experiencing vasculitis due to tripotelin injection. Her treatment for PCC was switched to Depot Leuprolide acetate and she continued her treatment for 2 years uneventfully. It should be kept in mind that in pediatric PCC patients who develop side effects like cutaneous vasculitis, the treatment may be continued by changing the preparation.

To assess current practice patterns and identify knowledge gaps among pediatric endocrinologists in the United States regarding screening and counseling for combustible tobacco and e-cigarette use in youth with diabetes.Electronic cigarettes (e-cigarettes) are the most used tobacco product among adolescents and may be associated with an increased risk of progression to combustible cigarette smoking, cardiovascular disease, and stroke. Diabetes mellitus is a known risk factor for cardiovascular disease, and nicotine products can increase this risk. We sought to assess current practice patterns and identify knowledge gaps among pediatric endocrinologists in the United States regarding screening and counseling for combustible tobacco and e-cigarette use in youth with diabetes.We conducted an anonymous, online-based survey of Pediatric Endocrine Society members who provide care to youth with Type 1 or Type 2 diabetes. The survey collected information about provider demographics and smoking habits, knowledge and attitudes regarding screening and counseling for combustible tobacco and e-cigarette use, and current practice patterns.The survey was completed by 106 individuals of whom 64 reported providing care to youth with diabetes mellitus and ever asking about combustible tobacco or e-cigarette use. The majority of respondents were female, attending providers, and working in academic medical centers. None reported a history of formal training in e-cigarette counseling but recognized the harms of e-cigarette use. Nearly all (98%) who ever screen for nicotine use reported routinely screening for combustible tobacco use, while 18% never screen for e-cigarette use (p 0.01). Over 80% of respondents reported feeling confident or very confident about discussing the harms of combustible tobacco, compared to 58% reporting the same confidence in discussing harms of e-cigarette use (p 0.0001). Over 90% of respondents agreed that pediatric endocrinology providers should ask about nicotine use with over half agreeing that counseling reduces the risk of initiating nicotine product use, and 30% reported lack of change with counseling as a barrier to discussing nicotine use. Lack of visit time was the most reported barrier to discussing nicotine use. More providers cited lack of knowledge regarding e-cigarettes compared to combustible tobacco as a barrier to discussing its use.Pediatric endocrinology providers recognize the harms of e-cigarette use, but more frequently ask about combustible tobacco use compared to e-cigarette use. This may be related to lower reported confidence and provider knowledge in counseling about e-cigarette use. Increased utilization of existing resources and expanding opportunities for providers to learn more about e-cigarettes may increase provider confidence and comfort in screening and counseling.

Gene therapy has become an appealing therapeutic option in many pediatric fields, including endocrinology. Unlike traditional drugs based on molecules that require repeated and frequent burdensome administrations, a single genetic therapeutic intervention may allow durable and curative clinical benefits. Although this highly innovative technology holds a great promise for the treatment of monogenic diseases, its clinical applications in the field of endocrinology have been so far challenging. In this review, we will discuss various ex vivo and in vivo approaches and potential applications of gene addition and gene editing approaches for treating hyperfunctional and hypofunctional endocrine diseases due to intrinsic defects or autoimmune origin. We will focus on the recent advances in gene therapy approaches aimed at treating type 1 diabetes and monogenic forms of endocrinopathies such as growth hormone deficiency, congenital adrenal hyperplasia, diabetes insipidus, IPEX, as well as their trends and future directions.

Purpose Rare diseases affect Methods We evaluated the current situation of patients with rare endocrine disease and present the joint views of the European Society for Endocrinology (ESE) and the European Society for Pediatric Endocrinology (ESPE) on how the endocrine disciplines can support and contribute to a better health of patients with rare endocrine conditions in Europe. Results Rare diseases pose many challenges, including early diagnosis and innovative treatment options. Rare endocrine diseases can be found among inherited disorders, cancers, and conditions associated with metabolic disorders such as diabetes, calcium and bone metabolism, lipid metabolism, hypogonadism, and adrenal, pituitary, and thyroid dysfunction. According to the European Registries for Rare Endocrine conditions, there are over 440 distinct rare diseases that affect the endocrine system. Rare endocrine diseases are often chronic and life-threatening. Conclusions ESE and ESPE support a strategic plan to address unmet needs in the area of rare endocrine conditions. The EU should continue to evolve and expand its plans for funding European Reference Networks so that they can expand their activities.

Background: An ENDO-European Reference Network (ERN) initiative was launched that was endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology with 22 participants from the ENDO-ERN and the two societies. The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic literature search was conducted to identify key articles on neonatal screening, diagnosis, and management of primary and central CH. The evidence-based guidelines were graded with the Grading of Recommendations, Assessment, Development and Evaluation system, describing both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. Summary: The recommendations include the various neonatal screening approaches for CH as well as the etiology (also genetics), diagnostics, treatment, and prognosis of both primary and central CH. When CH is diagnosed, the expert panel recommends the immediate start of correctly dosed levothyroxine treatment and frequent follow-up including laboratory testing to keep thyroid hormone levels in their target ranges, timely assessment of the need to continue treatment, attention for neurodevelopment and neurosensory functions, and, if necessary, consulting other health professionals, and education of the child and family about CH. Harmonization of diagnostics, treatment, and follow-up will optimize patient outcomes. Lastly, all individuals with CH are entitled to a well-planned transition of care from pediatrics to adult medicine. Conclusions: This consensus guidelines update should be used to further optimize detection, diagnosis, treatment, and follow-up of children with all forms of CH in the light of the most recent evidence. It should be helpful in convincing health authorities of the benefits of neonatal screening for CH. Further epidemiological and experimental studies are needed to understand the increased incidence of this condition.

Childhood obesity is an urgent problem of pediatric endocrinology due to the widespread occurrence, the development of metabolic complications and their steady tracking into adulthood. The developed clinical guidelines are the main working tool of the practitioner. They briefly and structurally present the main information about the epidemiology and modern classification of obesity, methods of its diagnosis and treatment based on the principles of evidence-based medicine.

Aims: In March and April 2020, at the start of the COVID-19 pandemic, our previous survey of Italian pediatric diabetes centers showed that 75% of telemedicine use was voluntary. We hypothesized that the COVID-19 pandemic has acted as a picklock to overcome barriers to telemedicine regulation, use, and reimbursement. Methods: Between March 22nd and April 12th, 2021, the same survey administered in 2020 was sent to all 68 Italian pediatric diabetes centers belonging to the Italian Society for Pediatric Endocrinology and Diabetes (ISPED) to collect data on the demographic variables of respondents; information about the center; the use, codification, and reimbursement of telemedicine; and used tools. Descriptive data were evaluated to establish how the COVID-19 pandemic has changed telemedicine practice. Results: Eighty-two percent of responder centers reported an increase in the use of telemedicine, with televisits by video calling implemented in over half of centers. There was a significant increase in the number of centers formally tracking telemedicine use and obtaining reimbursement from the national health service (42% vs. 29% and 62% vs. 32%; p < 0.001, respectively). No reimbursement was provided to centers not using televisits. Conclusions: From a voluntary procedure with a lack of traceability, telemedicine has become a new structured reality that may help our pediatric patients beyond this pandemic.

To identify social determinants of health care that are associated with poorer pediatric well-differentiated thyroid cancer (WDTC) outcomes and increased stage at presentation.Using the SEER database (Surveillance, Epidemiology, and End Results), we retrospectively gathered data on pediatric WDTC across the United States between 1973 and 2015.All patients between 0 and 19 years old with a diagnosis of WDTC were included.Patient variables were analyzed for relationships to AJCC stage at presentation (American Joint Committee on Cancer), overall survival, and disease-specific survival.Among 3913 patients with pediatric thyroid cancer, 3185 were female (81.4%), 3366 had papillary thyroid cancer (85.3%), and 367 had follicular thyroid cancer (9.4%). Two- and 5-year overall and disease-specific survival approached 100%. However, when outcomes were analyzed by specific populations, male sex, non-Caucasian race, poverty, and language isolation were linked to worse overall survival. Male sex and poverty were associated with poorer disease-specific survival. Regarding overall AJCC stage at presentation, male sex and Black race were related to higher overall presenting AJCC stage. Later AJCC T stage at presentation was seen in male, Hispanic, Asian, and Black patients. There were no variables significantly related to following through with recommended surgery.Pediatric WDTC continues to carry an excellent prognosis in the United States. However, when we consider specific populations, the social determinants of health care affect survival and disease burden at presentation: male sex, poverty, language isolation, and race affected survival and/or AJCC stage at presentation in pediatric WDTC.

Introduction GNAS mutations have been reported in both McCune-Albright syndrome (MAS) and juvenile granulosa cell tumors (JGCT) but have never been reported simultaneously in the same patient. Case Presentation A 15-year-old girl developed secondary oligomenorrhea. Laboratory studies revealed suppressed gonadotropin levels with markedly elevated estradiol and inhibin B levels. Pelvic ultrasound showed a 12-cm heterogeneous right adnexal mass; pelvic magnetic resonance imaging to further characterize the mass displayed heterogeneous bilateral femoral bone lesions initially concerning for metastatic disease. Positron emission tomography/computed tomography showed minimal 18F-fluorodeoxyglucose (FDG) uptake in the pelvic mass but unexpectedly revealed FDG uptake throughout the skeleton, concerning for polyostotic fibrous dysplasia in the context of MAS. The adnexal mass was excised and pathology confirmed a JGCT. The patient’s affected bone and JGCT tissue revealed the same pathogenic GNAS p.R201C mutation, while her peripheral blood contained wild-type arginine at codon 201. Conclusion This mutation has been previously reported in cases of MAS and JGCT but never simultaneously in the same patient. This demonstration of a GNAS mutation underlying both JGCT and MAS in the same patient raises questions about appropriate surveillance for patients with these conditions.

To compare clinical outcomes of 3 treatment regimens-glucocorticoids (GCs), oral contraceptives (OCs), or a combination of both-administered to adolescents and young women diagnosed in childhood with nonclassical congenital adrenal hyperplasia (NCCAH), who had been treated with GCs until their adult height was achieved.A retrospective study of medical records of 53 female patients with NCCAH followed in 3 tertiary pediatric endocrinology institutes. The 3 treatment groups were compared for the prevalence of hirsutism and acne, standardized body mass index (BMI)-standard deviation score (SDS), and androgen levels at the attainment of adult height (baseline), 1-year later, and at the last documented visit.At baseline, there were no significant differences among groups in BMI-SDS, androgen levels, hirsutism prevalence, acne, or irregular menses. From baseline to the last visit, the rate of hirsutism declined significantly only in the OC group (37.5% vs 6.2%, respectively; P = .03). The rate of acne declined in the combined group (50% vs 9%, respectively; P = .03) with a similar tendency in the OC group (50% vs 12.5%, respectively; P = .05). No significant changes were observed in BMI-SDS for the entire cohort or any subgroup during follow-up. A significant rise in androstenedione (P.001), testosterone (P.01), and 17-hydroxyprogesterone (P.01) levels was observed only in the OC group.In girls diagnosed in childhood with NCCAH, who require treatment for hyperandrogenism following completion of linear growth, management should be tailored individually using a patient-centered approach. Treatment with OCs might be better than that with GCs for regression of hirsutism and acne. The long-term effects of elevated levels of androgens associated with this treatment regimen should be further studied.

Introduction Pediatricians are at the front line to diagnose new-onset diabetes and treat acute diabetes complications in children. Pediatric residents need a strong foundation in recognizing and managing pediatric diabetes, imposing a demand for a structured, comprehensive pediatric-specific diabetes curriculum. Methods This three-module case-based curriculum focused on diabetes fundamentals relevant to pediatricians in the outpatient and inpatient settings. Each module covered an independent topic within pediatric diabetes. Topics included diabetic ketoacidosis, new-onset diabetes management, and acute complications of diabetes. The modules were focused, short, and flexible to accommodate learners’ demanding clinical duties and time limitations. We delivered the curriculum to pediatric residents rotating in the inpatient endocrinology department over 3 separate days. Pre- and posttests assessed learners’ knowledge and confidence in diabetes care. Results We tested the curriculum for 7 months in 10 individual cycles, with 11 learners participating. We noted an increase in learners’ scores on diabetes knowledge assessment of 16% (95% CI, 5–28; p = .01) after completing the curriculum. The residents’ confidence in performing diabetes clinical care skills also improved, with the majority going from reporting low or neutral confidence before instruction to reporting high confidence after instruction. Learners reported 100% extreme satisfaction with the curriculum. Discussion This case-based curriculum exposed residents to pediatric diabetes using authentic, clinically relevant, engaging scenarios. The curriculum enabled learners to actively rationalize their thought process and slow down learning. Short and focused, the curriculum was suitable for mitigating the cognitive load and the time constraints in busy clinical environments.

AUTOMATIC REFERRALS WITHIN A CYSTIC FIBROSIS MULTIDISCIPLINARY CLINIC IMPROVE PATIENT EVALUATION AND MANAGEMENT. Background: Cystic fibrosis (CF) affects multiple systems beyond the pulmonary system, including the gastrointestinal and endocrine systems. Many CF clinics focus on pulmonary effects, initiating referrals to other specialties only when a condition has been identified by the primary pulmonary team. Unfortunately, many extrapulmonary manifestations of cystic fibrosis may be overlooked. Thus, implementing a multidisciplinary clinic with automatic referrals to designated subspecialists may improve patient care. Methods: This retrospective review of medical records examined the effects of integrating a pediatric endocrinologist into the University of Massachusetts Memorial Medical Center Pediatric CF Clinic in March 2017. In this new CF/Endocrinology clinic, all patients scheduled to see a pulmonologist were automatically referred to pediatric endocrinology. We compared rates of referrals to pediatric endocrinology, oral glucose tolerance tests (OGTTs), and bone density (DEXA) scans before (2013–2016) and after (2017–2020) implementation of this clinic. We also recorded endocrine disorders being evaluated and/or treated after implementation. Results: The rate of referral to pediatric endocrinology increased from before (4%) to after (82%) (p

Objective: As the global pandemic caused by the SARS-CoV-2 virus continues unabated, healthcare delivery has been altered significantly impacting patients and providers. We examined the impact of COVID-19 on pediatric endocrinology practice and the challenges faced in pediatric diabetes care. Methods: A 27-item electronic survey was designed, pilot-tested, and deployed to pediatric endocrinology providers using the e-mail discussion lists of the American Academy of Pediatrics, Section on Endocrinology, and the Pediatric Endocrinology Clinical Case Mailing List (May and June 2020). The survey had questions regarding changes in practice, telemedicine use, and observed changes in diabetes disease manifestation. Results: 114 unique responses were analyzed, 79.3% were female respondents. Most (95.6%) providers surveyed were practicing in the United States, and 87.7% reported a decline in their patient volume. Telemedicine use was common [97% (95% CI: 92.4% - 99.4%)] and recent [83.3% (95% CI: 75.2% - 89.7%)] with 98% utilizing remote glycemia monitoring tools. Children with diabetes in underserved and remote locations faced significant barriers to telemedicine use such as lack of connectivity (61%), and devices (59%). Negative consequences on health due to the pandemic included, delay in diabetes diagnosis (33.3%), lack of follow-up (22.0%) and higher diabetic ketoacidosis cases (22.0%). Increased anxiety was commonly reported (66%). Conclusion: The COVID-19 pandemic has led to decline in patient volumes, with rapid adaptation to telemedicine use. Providers noted negative effects due to the pandemic on diabetes care including mental health. Benefits from telemedicine use were observed with a digital divide in underserved populations. Disclosure M. Chambers: None. M. Sinha: None. Funding National Institute of Diabetes and Digestive and Kidney Diseases