Context:Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management.Objective:The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology.Design:A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using Haloplex capture and next-generation sequencing. Patients with congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune adrenal insufficiency, or obvious syndromic PAI were excluded.Setting:The study was conducted in 19 tertiary pediatric endocrinology clinics.Patients:Ninety-five children (48 females, aged 0–18 y, eight familial) with PAI of unknown etiology participated in the study.Results:A genetic diagnosis was obtained in 77 patients (81%). The range of etiologies was as follows: MC2R (n = 25), NR0B1 (n = 12), STAR (n = 11), CYP11A1 (n = 9), MRAP (n = 9), NNT (n = 7), ABCD1 (n = 2), NR5A1 (n = 1), and AAAS (n = 1). Recurrent mutations occurred in several genes, such as c.560delT in MC2R, p.R451W in CYP11A1, and c.IVS3ds+1delG in MRAP. Several important clinical and molecular insights emerged.Conclusion:This is the largest nationwide study of the molecular genetics of childhood PAI undertaken. Achieving a molecular diagnosis in more than 80% of children has important translational impact for counseling families, presymptomatic diagnosis, personalized treatment (eg, mineralocorticoid replacement), predicting comorbidities (eg, neurological, puberty/fertility), and targeting clinical genetic testing in the future.

Objective:Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods:Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results:The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion:This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.

ÖZGiriş: Günümüzde astım ve vitamin D eksikliği prevalansı oranı paralel şekilde artmakta ve önemli morbiditelere neden olmaktadır. Çalışmanın amacı, serum D vitamini düzeylerini astımlı çocuklar ile sağlıklı kontroller arasında karşılaştırmak, D vitamini düzeylerinin astım klinik parametreleri ile ilişkisini ve astım kontrolü üzerine etkisini değerlendirmektir. Results: Serum vitamin D levels were 17.27 (5.77) ng/ml in the asthma group and 22.78 (10.64) ng/ml in the control group, indicating statistical significance (p= 0.001). When the asthma patients were divided into groups according to vitamin D level, 72.2% were deficient while 27.8% had adequate levels. The number of asthma exacerbations, number of emergency service visits and the number of hospitalizations within the last year were higher in the deficient group, compared to the adequate group (p <0.001, p Gereç ve

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Simple predictors are needed for the screening of nonalcoholic fatty liver disease (NAFLD) in obese children. We aimed to assess the role of anthropometric parameters in the prediction of NAFLD. Three hundred and thirty two obese children (152 male, 180 female) aged 4.6-17.0 years were included in this study. Weight, height, waist (WC), and hip circumference were measured. Body mass index (BMI), waist-hip-ratio (WHR), and waist-height-ratio (WHtR) were calculated. Obesity was defined as BMI for age and sex ≥ 95th percentile. NAFLD was diagnosed using ultrasonography (US). NAFLD was present in 60.8% of obese children. Fatty liver prevalence differed significantly by gender and puberty (55.0% of girls vs 67.7% of boys, and 28.7% in prepubertal vs 71.3% in pubertal children; p < 0.05). Significantly higher BMI, BMI standard deviation score (SDS), WC, and WHtR were found in obese children with NAFLD compared to obese children without NAFLD (p < 0.05). Only WHtR was found to be an independent predictor for NAFLD in a logistic regression analysis (p < 0.001, B:1.096, 95% CI 1.047-1.148). Fatty liver is common among obese children, particularly in obese boys. WHtR is a simple and easy index for predicting of NAFLD in obese children and can be used for mass screening in public health.