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Objective: Maturity-onset diabetes of the youth (MODY) is a genetically and clinically heterogeneous group of diseases which is often misdiagnosed as type 1 diabetes or type 2 diabetes. The aim of this study is to identify the occurence of mutations in subjects classified clinically as having MODY, and to determine phenotypic features and their long-term monitering consequences. Methods: Eighteen probands were selected based on the clinical criteria of MODY. Firstly, in patients with mild stable fasting hyperglycemia who did not progress, Sanger sequencing of GCK gene was performed as GCK-MODY was the most common cause of persistent and incidental hyperglycemia in the pediatric population. Patients without a GCK gene mutation or without mild fasting hyperglycemia were analysed by using targeted next-generation sequence for seven known monogenic genes of diabetes (ABCC8, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11) to identify the molecular pathology. Results: We identified 11 GCK, 2 HNF1A, 2 KCNJ11 mutations in 18 probands. Eleven of them (73%) were previously reported and 4 of them (27%) were assessed as novel mutations. In two patients who were treated with insulin before the molecular analysis, insulin was switched to sulfonylurea and glibenclamide, after determination of pathogenic variants in HNF1A and KCNJ11, respectively. Retinopathy or nephropathy was not detected among the patients. Conclusion: The MODY has a large spectrum of clinical presentations. We detected 4 novel mutations among our cohort. Although GCK-MODY was the most frequent type of our study population, identification of rare MODY types and follow-up of these patients would help us better understand monogenic diabetes. [ABSTRACT FROM AUTHOR]

Objective: The free androgen index (FAI) is the ratio between total testosterone and sex hormone binding globulin (SHBG), and it has been proposed as a marker. FAI is increasingly used in the definitive diagnosis of patients with hyperandrogenism. Although the reference range of FAI in adult females has been identified, there are no adequate studies on the reference range for adolescent girls. We determined the diagnostic value of FAI in adolescent girls diagnosed with obesity, idiopathic hirsutism (IH) and polycystic ovary syndrome (PCOS). Methods: Patients aged 12 to 21 years and diagnosed with obesity, IH and PCOS were included in the study. FAI was found by calculating the ratio of total testosterone to SHBG. Results: According to receiver-operating characteristic (ROC) analysis results, FAI level under 3.45 indicated that the participants were healthy. ROC analysis was also used to determine the usefulness of FAI in distinguishing between healthy participants and those diagnosed with PCOS, obesity, IH. It was determined that patients with FAI above 6.15 should be evaluated for PCOS. Conclusion: We concluded that FAI is a reliable marker to identify and follow up patients with hyperandrogenism and the reference values we found in our study can be used in clinical practice. [ABSTRACT FROM AUTHOR]

Background/aim: Congenital hypothyroidism (CH) is divided into two groups as 'permanent' and 'transient'. We aimed to determine the rate of transient and permanent congenital hypothyroidism of the newborns referred to our clinic. Materials and methods: Of the newborns who were referred to our clinic from the neonatal screening program, those who were diagnosed with CH and started treatment were included in the study. he treatments of the patients whose required daily treatment dose was reduced to under 1 µg/kg were terminated and those who were followed monthly and whose fT4 and thyroid-stimulating hormone (TSH) levels were normal at least 3 times without treatment were considered to have transient hypothyroidism. Results: Of the 256 newborns referred to our clinic from the neonatal screening program, 114 (44.5%) were diagnosed with CH. Of the CH patients, 70% (n = 58) were evaluated to have permanent and 30% (n = 25) transient hypothyroidism. Neonatal and serum TSH levels and treatment doses were found to be signiicantly lower in the transient hypothyroidism patients. Conclusion: Initial measurements of the serum TSH level and the required doses of L-thyroxine therapy for maintaining normal thyroid hormone levels, growth, and development may have a predictive role for diferentiating permanent forms of CH from transient forms. [ABSTRACT FROM AUTHOR]

Proopiomelanocortin (POMC) deficiency is a rare monogenic disorder with early-onset obesity. Investigation of this entity have increased our insight into the important role of the leptin-melanocortin pathway in energy balance. Here, we present a patient with POMC deficiency due to a homozygous c.206delC mutation in the POMC gene. We discuss the pathogenesis of this condition with emphasis on the crosstalk between hypothalamic and peripheral signals in the development of obesity and the POMC-melanocortin 4 receptors system as a target for therapeutic intervention. [ABSTRACT FROM AUTHOR]

Objective: We aimed to evaluate anthropometric, clinical and laboratory findings of cases with premature pubarche (PP) at baseline and during follow-up. Material and Methods: A total of 117 cases (110 girls), who presented with the complaint of pubic and/or axillary hair growth before 8 years of age for girls and 9 years for boys, were evaluated retrospectively (the mean fallow up period was 16.2±13.5 months). results: The mean age of the girls was 7.2±0.9 years, the mean age at symptom initiation was 6.4±1.3 years and the mean bone age (BA) was 8.0±1.3 years. The ratio of BA/chronological age (CA) was 1.1, height standard deviation score (SDS) was 0.6±1.2, target height was 159.1±5.3 cm and predicted height was 157.7±7.5 cm. The mean CA of boys was 8.4±0.8 years and the mean age at the initiation of symptoms among the patients was 7.7±1.1 years. 53.7% of girls and 56% of boys were overweight. 21% of all patients had low birth weight (LBW) and 14% were premature at birth. Serum dehydroepiandrosterone sulfate level was higher than 40 µg/dL in 76.5% of patients revealing positive correlation with BA. Two patients were diagnosed with classical congenital adrenal hyperplasia (CAH) (21 hydroxylase deficiency) and nine were found to be CAH carriers at the beginning. On follow-up, 12 girls (11%) with accompanying thelarche were diagnosed with central puberte precox (CPP) after the luteinizing hormone releasing hormone test. The final diagnosis of 117 cases that clinically had PP on the beginning was as follows: 94 (80%) PP, 12(11%) CPP, 9 (7.3%) CAH carrier and 2 (2.7%) classical CAH. conclusion: As another clinic pathology was determined in 20% of PP cases during the repeated evaluations, we would like to emphasize that the differential diagnosis should be performed very attentively not only at the beginning, but also on follow-up. It was found that mildly advanced bone age would not affect the final height unfavorably. [ABSTRACT FROM AUTHOR]