ESPE Abstracts

Background: Resistance to thyroid hormone β (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone. The study aim ed to evaluate the clinical, laboratory features, and genotype-phenotype relationship of Turkish patients with RTHβ.Patients and Methods: Patients who underwent a THRβ gene analysis betwe...

Introduction: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease. The NF-1 gene is located on chromosome 17 and encodes a gene product called neurofibromin. Mutation or deletion of the NF-1 gene results in phenotypic features involving many systems. Hypophosphatasia is a group of inherited disorders characterized by impaired mineralization of bones and/or teeth and low serum alkaline phosphatase (ALP) activity. It occurs as a result of a loss-of-...

Introduction: Cystinosis is an inherited (autosomal recessive) lysosomal storage disorder characterized by accumulation of cystine crystals in kidney, liver, eyes and brain. Patients can present to pediatric endocrinology clinics with growth retardation and vitamin D resistant rickets particularly in nephropathic infantile form. Here, we aimed to present genetic and clinical spectrum of ten patients who have been followed with the diagnosis of cystinosis, a rare cause of hypop...

Background: Clinically, hyperinsulinemic hypoglycemia (HH) can cause apnea, growth retardation and learning disorders. Early diagnosis and meticulous follow-up are of importance to prevent undesired neurological outcomes. Congenital hyperinsulinism results from eight distinct gene defects. These genes include ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, and UCP2. The most common causes are autosomal recessive mutations of ABCC8 and KCNJ11 genes (5).M...

Objective: Platelets play a key role in the development and progression of cardiovascular disease. The degree of platelet activation may be assessed by platelet indices such as platelet count, mean platelet volume (MPV) and platelet distribution width (PDW). In addition, both epidemiological and in-vitro studies have linked vitamin D deficiency to enigmatic disease including cardiovascular disease however a clear mechanistic link remains missing. In present study, we ...

Introduction: The role of enlarged adenoid tissue has been long discussed in terms of causes leading obstructive sleep apnea. Sleep disorders in children with adenoid vegetation impair quality and duration of REM sleep where GH secretion is higher. We also thought that cortisol that displays a circadian rhythm might be also affected by sleep disorders. For this purpose, we planned to determine presence of neurosecretory dysfunction (NSD), time and level of cortisol peak in the...

Aım: İn this prospective planned study, it was aimed to study relationship between vitamin D level and vitamin D receptor gene polimorphism in patients with type l DM aged 0–18 years old.Methods and materials: We enrolled total 165 children in which 101 new and old diagnosed to WHO criterias TIDM patients from 0–18 years old and 64 chıldren as control group who were matched with gender and age. İn all cases serum Ca, P, PT...

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis.Aim: The purpose of this study was to investigate genotype-phenotype correlation, clinical findings and long-term outcomes in patients with CAH due to 11β-hydroxylase deficiency (11β-OHD) and 21-hydroxylase deficiency (21-OHD).Paients and methods...

Background: Close monitoring of growth is vital when following children with achondroplasia yet existing growth curves suffer from a simple chart format and their clinical use is therefore limited. Also, references for body proportions; i.e. sitting height, relative sitting height and arm span, are lacking.Objective and hypotheses: The aim of this study was to construct age-specific growth curves for height, weight, BMI, head circumference and body propo...

Objective: It is known that vitamin D has differential roles in cell proliferation, differentiation, neurotransmission and neuroplasticity in nervous system and exerts neurotrophic and neuroprotective effects. In recent studies, it was shown that vitamin D could be protective against in age-related macular degeneration and optic neuritis related to demyelinating disorders. Here, we aimed to perform visual evoked potential (VEP) studies before treatment in patients with rickets...