ESPE Abstracts

Background: Prevelance of type 1 Diabetes Mellitus is increasing world wide and it is associated with multiple factors.Objective and hypotheses: We aimed to evaluate the clinical and laboratory characteristics of patients with type 1 DM.Method: Clinical records of 184 patients with diabetes (0–18 years) admitted between January 2010 and January 2014 were analysed retrospectively. Age and season at admission, type of admission,...

Background: In 2012, a phenomenon of early isolated gonadotropin-independent thelarche among contemporary girls was reported.Objective and hypotheses: We wanted to evaluate whether a contemporary isolated early pubarche also exists. One way of looking into this is by investigating the age of pubarche in a group of girls with premature pubarche (PP) over time. If some girls had earlier pubarche, then, we would expect a subgroup (i.e. those younger than 8 ...

Background: Thyroid nodules are less common in childhood but it has higher risk of malignancy. In this study, we aimed to evaluate children and adolescents with thyroid nodules, clinically, radiologically and histopathologically to determine etiologic distrubution.Method: Seventy-one patients (46 females) with the mean age of 10.41±5.03 (0.04–21) years with thyroid nodules were involved in this study. Patients were evaluated by their complaints...

Background: Silent corticotroph adenomas are adenomas composed of corticotrophs but are different from corticotroph adenomas. Despite being silent, they show more aggressive behavior than other clinically nonfunctional adenomas. Adrenocortical choristomas in silent corticotroph adenomas (i.e. the presence of adrenocortical cells in the heterotopic location of the sella) were reported in three patients 16 years or older until now.Objective: Here we report...

Background: Vitamin D dependent type 1 rickets is a rare, autosomal-dominantly inherited disorder due to an inactivating mutation in CYP27B1 (25-OH vitamin D-1-α-hydroxylase) gene. It is characterized by early onset of rickets with hypocalcemia. We report a boy admitted with symptoms of hypocalcemia and who carried a novel mutation in CYP27B1 gene.Case: The patient was admitted with tetany at the age of 12 months. When he had his first convulsion, h...

Background: Corticosterone methyloxidase deficiency (CMOD) type 2 is an autosomal recessive disorder which presents with salt loss and failure to thrive in early childhood. We present three siblings with CMOD type 2 whose genetic analyses revealed a known c.1175T>C mutation (homozygous) and a novel c.788T>A mutation (homozygous) in CYP11B2 gene.Case 1: The patient was admitted with salt loss and failure to thrive at the age of 6 months; ...

Background: It is well-known that human GH (hGH) treatment increases growth rate in idiopathic short stature (ISS) in the short term which might predict the overall height gain. However,the fact that ISS might involve a heterogeneous group of individuals with individual benefits from hGH treatment makes the decision to treat or not to treat difficult.Objective and hypotheses: The aim of this study was to investigate retrospectively whether an IGF1 genera...

Purpose: MODY is a monogenic diabetes with autosomal dominant inheritance that usually occurs in adolescence or young adulthood. It constitutes 1% of diabetes cases in childhood. The diagnosis of MODY is very difficult due to genetic heterogeneity, rarity, and clinical overlap with other diabetes types. In recent years, the diagnosis of MODY has become easier with genetic developments. On the other hand, misinterpretation of results can cause confusion. In thi...

Aim: The most common cause of persistent hypoglycemia and related brain damage in infancy is congenital hyperinsulinism (CHI), due to inappropriate secretion of insülin by pancreatic βcells. The most frequent and most serious mutations are activating mutations in ABBC8 or KCNJ11 genes. Genetic analyses, which might predict the type of lesion, performed in early period and 18f dopa pet scanning are very valuable for treatment choice and follow-up of the patients. In t...

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessively transmitted disease and 95% of CAH cases are due to 21-hydroxylase deficiency (21-OHD). There are more than 100 mutations that cause CAH due to 21-OHD and the clinical expression of the disease is reported to correlate with mutated alleles.The aim: The aim of this study was to investigate responsible mutations and then to evaluate genotype...