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Aim: The objective of this study is to explore the association between inflammation and the severity of hypertension by analyzing inflammation biomarkers, such as CRP, IL-1, proBNP, leptin, and PTX-3 levels, in children with obesity-related hypertension. Material and Methods: The study included 30 children (20 girls, 10 boys) with obesity-related hypertension and 30 healthy children (22 girls, 8 boys) as controls. Clinical and demographic data were collected for all participants. Echocardiographic measurements of left ventricular systolic and diastolic diameters, volumes, and wall thicknesses were taken and adjusted for body surface area. After echocardiographic evaluation, blood samples (10 cc) were drawn from both groups to measure IL-1, CRP, leptin, proBNP, and PTX-3 levels. Results: The patient group had significantly higher systolic and diastolic blood pressure, height, weight, and body mass index compared to the control group. Echocardiographic assessments revealed significantly increased interventricular diastolic diameter (IVSd), left ventricular diastolic diameter (LVIDd), left ventricular posterior wall diastolic diameter (LVPWd), interventricular systolic diameter (IVSs), and left ventricular systolic diameter (LVIDs) in the patient group. Leptin and CRP levels were notably higher in the obesity group. In healthy children, there was a moderate positive correlation between leptin and systolic blood pressure. A moderate negative correlation was observed between proBNP and systolic blood pressure, and a weak positive correlation between leptin and diastolic blood pressure was noted in the obesity group. Leptin, blood pressure, height, weight, body mass index, and cardiac dimensions were significantly elevated in obese patients requiring anti-hypertensive treatment. Conclusion: Inflammatory markers may be crucial for early diagnosis of obesityrelated hypertension, guiding the development of therapeutic approaches to reduce target organ damage. Elevated inflammation markers in obese patients may indicate the severity of hypertension, aiding in organ damage prevention through lifestyle changes. [ABSTRACT FROM AUTHOR]

Context: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol synthesis, as well as an increased mineralocorticoid effect. Aim: This study aimed to evaluate the clinical, biochemical, and molecular characteristics of patients with 17OHD and to discuss the diagnosis, treatment, and follow-up process. Methods: Age, symptoms, anthropometric measurements, blood pressure, and hormonal, biochemical, and chromosomal analysis results of 13 patients diagnosed with 17OHD between 2003 and 2022 were recorded at admission and during follow-up. Whole gene next-generation sequencing was performed for the CYP17A1 gene. Multiplex ligation-dependent probe amplification was used to detect deletions in patients without point mutations in CYP17A1. Results: The median age at diagnosis was 14.0 (3.5–16.8) years. Nine of 13 patients (69.2%) had 46,XY karyotypes. All patients were phenotypically female and were raised as girls. The most common reasons for admission were the absence of puberty and amenorrhea (n = 8, 61.5%), followed by hypertension (n = 3, 23.0%), and family screening (n = 2, 15.3%). At the time of diagnosis, hypertension was detected in 10 (76.9%) patients, and 11 (84.6%) patients had hypokalemia. Conclusions: 17OHD should be considered in patients with pubertal delay/primary amenorrhea, hypertension, and hypokalemia. Adrenal function should be included in the clinical study of hypergonadotropic hypogonadism, after excluding Turner syndrome, in all 46,XX females. Deletion in the CYP17A1 gene, including exons 1–6, is the founder mutation for Turkey's east and southeast regions. [ABSTRACT FROM AUTHOR]

There is a scarcity of data concerning endocrine function and the effects of enzyme replacement therapy (ERT) on growth and other endocrine functions in patients with mucopolysaccharidosis (MPS). This study retrospectively evaluated height increase, bone mineral density (BMD), and other endocrine functions in MPS patients who received ERT for at least two years in our clinic. The clinical findings, hormonal analysis (TSH, fT4, ACTH, cortisol, FSH, LH, testosterone, estradiol, prolactin, GH, IGF-1, IGFBP-3), and BMD measurements of 10 MPS patients, aged 0-18 years, before and after ERT were recorded and compared retrospectively. Four patients were MPS Type-2, five were MPS Type-4, and one was MPS Type-6. Nine of the patients were male, and one was female. The mean treatment onset age was 7.6 years. The mean ± standard deviation of the patients' height SDS was -4.61±3.01 before treatment and -5.65±2.42 after treatment. While the mean BMD Z-score of the patients was -2.33±1.77 before treatment, it was -0.94±1.52 after treatment. Apart from growth retardation (one of the most prominent disease features), no severe dysfunction was detected in other endocrine organs in our patients with MPS. Severe short stature was evident at the time of diagnosis in MPS patients, and their height SDS worsened, despite ERT. However, osteoporotic BMD Z-scores at diagnosis improved after ERT. No serious dysfunction was seen in other endocrine organs. [ABSTRACT FROM AUTHOR]

Distal renal tubular acidosis (dRTA) may rarely occur in the course of autoimmune diseases. We present a patient who was followed up with Graves' disease and vitiligo and who was diagnosed with dRTA upon detection of hypopotasemia. A 9.2-year-old girl presented with complaints of sweating, palpitations, and hand tremors. The patient had vitiligo on examination and was diagnosed with Graves' disease per clinical and laboratory findings. The patient, who received methimazole and was followed up as a euthyroid, was found to have hypokalemia in biochemical examinations performed at the age of 13 years. While investigating the etiology of hypokalemia, the patient was diagnosed with dRTA. Since she had two autoimmune pathologies, it was thought that the dRTA might be of autoimmune origin. Checking serum potassium levels in the follow-up of patients with Graves' disease may allow early diagnosis and treatment of accompanying dRTA. [ABSTRACT FROM AUTHOR]

Aim: The COVID-19 pandemic is a global health problem with high morbidity and mortality. This study aimed to compare the clinical features of newly diagnosed type 1 diabetes (T1D) patients during the pandemic with those diagnosed earlier and evaluate how the pandemic affected the T1D clinical findings on admission. Materials and Methods: This is a 2-year, single-center, cross-sectional study. The time between March 11, 2019, and March 11, 2020, was defined as the "pre-pandemic period," while the interval between March 11, 2020, and March 11, 2021, was called the "pandemic period." The clinical and laboratory parameters of newly diagnosed T1D patients admitted in these two time periods were compared. Results: The admission rate with DKA was higher in the pandemic period than in the pre-pandemic time (71.0% and 52.8%, respectively, p=0.046). There was no difference between the groups regarding the severity of DKA. The mean duration of diabetes symptoms before diagnosis was longer during the pandemic than in the pre-pandemic period (17.0 days and 12.5 days, respectively, p=0.035). Conclusion: Delayed admissions to health institutions of patients with diabetes signs and symptoms during the pandemic are worrisome. This delay is likely to have increased the DKA rate during the pandemic. As a result, children with diabetes symptoms should be ensured to apply to a health institution without hesitation, even in the pandemic. [ABSTRACT FROM AUTHOR]

Familial hypocalciuric hypercalcemia (FHH) is a benign disease associated with heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene. This article presents a girl with heterozygous p.Cys575Tyr variation in the CaSR gene. The serum calcium level of a 9.2-year-old girl was 12.4mg/dl in incidental laboratory analysis. On the same occasion, the serum parathyroid hormone (PTH) level was 45 pg/ml, 25(OH) vitamin D level 24.2ng/ml, 1.25 dihydroxy vitamin D level 22pg/ml, and urinary Ca/creatinine ratio <0.01. The ultrasonographic evaluation of the urinary system was unremarkable. The clinical and laboratory findings pointed towards FHD. A heterozygous p.Cys575Tyr (c.1724G>A) variation was detected in the patient's CaSR gene, which was reported before, but no clinical manifestations were specified. In children with asymptomatic hypercalcemia, the diagnosis of FHH should be considered if the PTH level is normal or high and the urinary calcium is low. [ABSTRACT FROM AUTHOR]

Background. The study aim was to examine changes in trends of presenting features during the diagnosis of patients followed up with newly diagnosed Type 1 diabetes mellitus (T1DM) over the past 24 years. Methods. The study was retrospective. Patients with a diagnosis of T1D between the years of 1996–2019 were included. Patients diagnosed in the first half of the period comprised Period I, and those from the second half comprised Period II. Patient data were extracted from medical records and included gender distribution, year of diagnosis, age at diagnosis, duration of symptoms, type of admission, frequency of diabetic ketoacidosis (DKA) and biochemical parameters. Subsequently, temporal changes in trends of these parameters were sought. Results. For the whole cohort the gender distribution was equal; 404 (49.6%) were girls and 410 (50.4%) were boys. Mean age at diagnosis was 8.5±4.2 years and age groupings at presentation were: 23.2% (n = 189) aged 0-4; 39.2% (n = 319) aged 5-9; 27.5% (n = 224) aged 10-13; 10.1% (n= 82) aged 14-18. At presentation 72 (12.7%) had hyperglycemia, 230 (40.6%) had diabetic ketosis, and 264 (46.6%) had DKA. In those with DKA, mild DKA was found in 103 (39.0%), moderate DKA in 81 (30.6%), and severe DKA in 80 (30.3%). While the frequency of DKA was 54.9% between 1996 and 2007 (Period I), this significantly decreased to 44.4% between 2008 and 2019 (Period II). Girls and boys had a similar rate of T1DM, and this did not change over time. Three peak ages of diagnosis were evident; 5-7, 8-10, 12-14 years of age. Conclusions. The frequency of DKA decreased and the frequency of admission with hyperglycemia and ketosis increased during the study period, which may have repercussions for mortality and morbidity rates and aid in improved treatment outcomes. [ABSTRACT FROM AUTHOR]

Unlabelled: Clinical findings illustrate the wide spectrum of the phenotypic manifestations of 45,X/46,XY mosaicism in the sex chromosome disorders of sex differentiation (DSD). The objective of study is to evaluate the characteristics of 45,X/46,XY patients and questioning of their place within the DSD categorization. The clinical findings of 11 patients with 45,X/46,XY mosaicism are described including the presentation, gonadal morphology, genital anatomy, and the hormone levels among 285 patients with DSD evaluated. Sixty-seven patients were diagnosed with sex chromosome DSD (50 Turner, three Klinefelter, ten 45,X/46,XY gonadal disgenesis, one 45X/46,XY ovotesticular DSD, one 47,XYY ovotesticular DSD, and two 46,XX/46,XY ovotesticular DSD). The type and the percentage of patients with 45,X/46,XY mosaicism were as follows: Four cases of mix gonadal dysgenesis, four cases of partial gonadal dysgenesis, two cases of complete gonadal dysgenesis, one case of ovotesticular DSD. On the other hand, another patient that has 45,X/46,XX mosaicism was diagnosed with MGD with the presence of the streak gonad on the right side and the testis on the other side.Conclusion: We suggest that sex chromosome DSD categorization can include 45,X/46,XY PGD and 45,X/46,XY CGD. Mixed gonadal dysgenesis may be also placed among the disorders of testicular differentiation of 46,XY DSD subdivision. [ABSTRACT FROM AUTHOR]

Autoimmune thyroiditis has been suggested as a precancerous condition in some adult studies, but there is still controversy. The importance of autoimmune thyroiditis in childhood thyroid cancer is not yet completely clear. We aimed to evaluate in this study the characteristics of childhood thyroid cancer in patients particularly in terms of coexisting factors including autoimmune thyroid disorders (ATD). Twenty patients diagnosed with primary thyroid cancer were evaluated retrospectively in a Pediatric Endocrinology clinic for 10 years. Patients were followed up for 57.22±11 months. Concomitant conditions (thyroidal and/or extra thyroidal) were determined. Most of the patients (80%) had a coexisting factor. ATDs are the most frequently encountered among them (40%). The ages at the time of diagnosis were older; and the tumor sizes were smaller in patients with concomitant ATDs than without autoimmune thyroid disorders. The follow-up characteristics were similar in both groups. In conclusion, ATDs are frequently encountered in association with thyroid cancer during childhood and adolescence. A thyroid autoimmunity may facilitate the development of a malignant thyroid tumor; on the other hand, increased attention to the thyroid gland may facilitate frequent diagnosis of thyroid cancer. A close follow-up of ATD patients should also include the evaluation of the development of thyroid malignancy.