ESPE Abstracts

Introduction: DAX1 (NROB1) mutation, that is among the causes of primary adrenal insufficiency; is revealed with X-linked congenital adrenal hypoplasia and hypogonodotropic hypogonadism. Growth hormone (GH) deficiency is not common in affected individuals. In the literature, there are few cases of GH treatment . growth hormone therapy in two cases with DAX1 gene mutation were evaluated in clinical features and treatment responses.<strong...

Objectives: Type 1 diabetes mellitus (DM) is an autoimmune disease caused by the destruction of pancreatic beta cells. The frequency of Type 1 DM is increasing, and the highest incidence rate is in children under 5 years of age. It is estimated that children under the age of five will develop approximately 70% of the cases under the age of 15, with an increased incidence.In our study, we aimed to evaluate the demographic, clinical an...

Introduction: A rare cause of diabetes mellitus is Wolfram Syndrome, which arises from mutations in wolframin gene found on chromosome 4. Optic nerve atrophy, diabetes insipidus, sensorineural deafness, psychiatric problems can accompany diabetes mellitus, so it can be also named as DIDMOAD syndrome. Hypergonadotrophic hypogonadism can be rarely observed in Wolfram syndrome. A case of novel homozygous mutation in the wolframin gene has been reported because of concomitant rare...

Introduction: The most common type of diabetes in childhood is type-1 diabetes. The group of diabetes called MODY (maturity-onset diabetes of the young) is rarer. Mutations that occur in glucokinase gene cause disruption in the perception of the resultant glucose level and, consequently, impaired insulin release, leading to the development of MODY-2. In this case, resulting hyperglycemia is usually at a mild, non-progressive level and does not require insulin therapy. For this...

Resistance to thyroid hormone (RTH) is a rare genetic disease caused by reduced tissue sensitivity to thyroid hormone. The hallmark of RTH is elevated serum levels of thyroid hormone with unsuppressed thyrotropin (TSH). The most common form of RTH results from minor defects in the ligand-binding domain of the TRb gene, resulting in impaired T3-induced transcriptional activity. This study aimed to characterize clinical and genetic features of THD suspected cases in our clinic. ...

Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes presenting in the first 6 months of life. NEUROD1 is a transcriptional factor involved in the development of endocrine pancreas. A few patients with maturity onset diabetes of the young (MODY) due to heterozygous NEUROD1 mutations and only two cases with permanent NDM (PNDM) associated to neurological disorders and cerebellar hypoplasia due to homozygous mutations in the NEUROD1 gene have been reported.<...

Objective: Spexin is a novel peptide implicated in food intake and satiety. Spexin levels are reduced in obese patients.Aim: To evaluate the associations of metabolic syndrome (metS) antecedents with serum spexin levels in obese adolescents.Setting: A university- based tertiary care centre.Patients and methods: Eighty consecutive obese adolescents aged 10-18 y and 80 healthy ...

Introduction: Primary osteoporosis (POP) is a rare and important problem in childhood that can cause serious skeletal deformities and morbidity. In this study, we aimed to reveal the spectrum of POP in childhood, and also to assess the effectiveness and safety of bisphosphonates in increasing BMD, reducing fractures, and improving quality of life.Method: Patients with POP and who received at least one course of pamidrona...

Introduction: Parathyroid adenoma (PRAD) is less common than in adulthood, but its morbidity is higher in children. The typical presentation is incidentally discovered as asymptomatic hypercalcemia. We aimed to evaluate the clinical characteristics of PRAD and our clinical experience since the early disease is often asymptomatic.Method: From 2010-2020, all children diagnosed with PRAD at our institution ...

Objective: Secondary osteoporosis has a high rate of accompanying chronic diseases. We aimed to review the clinical and laboratory features, underlying causes, Dual Energy X-ray Absorptiometry (DEXA) results before and after treatment of patients diagnosed with secondary osteoporosis and to determine the relationship between this condition and fracture rates.Methods: This study was designed as a single-center, descriptiv...