ESPE Abstracts

Background: Klinefelter syndrome, also known as 47, XXY, is a disorder characterized by tall stature, hypogonadism and mental retardation which is caused by nondisjunction events during meiosis and occurs in 500–1 000 live male birth. Here we report a patient with Klinefelter syndrome who presented with short stature, in contrast to common tall stature presentation and was diagnosed with GH deficiency.Case: A 7-year-old male presented with short sta...

Background: Monocarboxylate transporter 8 (MCT8) is a specific transporter of triiodothyronine (T3). MCT8 gene mutations cause a rare X-linked disorder known as Allan–Herndon–Dudley syndrome, characterized by thyroid dysfunction (high T3, low T4, and normal/high TSH) and psychomotor retardation.Case report: A 4-year- and 9-month-old boy, who was already having L-T4 treatment fo...

Introduction: Hyperparathyroidism is a disorder usually seen in adults and rarely in childhood.Case: A 14 years and 7 months old girl complaining of constipation applied to pediatric gastroenterology department was consultant to pediatric endocrinology department due to increased plasma calcium levels. She was healthy previously and had no vitamin D usage. In her physical exam; body weight: 53.8kg (-0.12 SD), height: 153,5cm (-1.32 SD), ...

Introduction: Obesity is considered a major risk factor for developing cardiovascular morbidity and mortality. Obesity affects the structure and function of the heart mainly by causing increased blood volume, elevated cardiac output, left ventricular (LV) hypertrophy, and LV diastolic dysfunction. All of which can play a role in causing heart failure.Objective: This cross-sectional study aimed to evaluate the effect of l...

Aim: Oligo- or amenorrhea is one of the most important features of polycystic ovary syndrome (PCOS). Anti-Mullerien Hormone (AMH) plays an inhibitory role in follicular development and contributes to hyperandrogenism in PCOS. Our aim was to assess differences in serum AMH and androstenedione levels, and clinical characteristics between adolescent girls with and without oligomenorrhea.Participants and methods: Sixty-eight adolescent girls with oligomenorr...

Introduction: Wolfram Syndrome (WFS: OMIM 222300), also known as DIDMOAD (diabetes mellitus, optic atrophy and deafness) is an autosomal recessive, progressive, neurologic, and endocrinologic, degenerative disorder caused by mutation in the WFS1 Gene. This report presents a case with a new defined mutation in WFS.Case presentation: Fourteen-year-old male patient was diagnosed with non-autoimmune type I diabetes at the age of 5 and insulin treatment was a...

Background: Dyslipidemia increases the frequency and severity of micro- and macro-vascular complications of type 1 diabetes.Objective and hypotheses: The present study aims to determine the prevalence of dyslipidemia and its association with clinical and laboratory findings in diabetic children and adolescents.Methods: The study included 202 children and adolescents with type 1 diabetes. Demographic data and laboratory findings wer...

Background: The familial type of isolated growth hormone deficiency (IGHD) is characterized by a variable degree of growth restriction, low but detectable GH serum concentrations. The recessive type IA and IB, the autosomal-dominant type II, and X-linked recessive type III. Phenotype-genotype correlations are notoriously difficult to be established. Herein, we described the patient who has autosomal-dominant type II IGHD due to a novel GH1 mutation.Objec...

Background: It’s well known that overt hypothyroidism leads to weight and body fat content increase but there is limited data in the literature about the effect of subclinical hypothyroidism (SH) on body composition parameters.Objective and hypotheses: In our previous study body composition parameters were evaluated in patients with SH and it was concluded that trunk fat mass was increased in SH patients before any alterations in basal metabolism ra...

Background: Obesity prevalence among children increased worldwide in last three decades. Childhood onset obesity is associated with increased mortality and morbidity related to cardiovascular diseases during adulthood. Dyslipidemia has a fundamental role in the pathogenesis of cardiovascular diseases.Objective and hypotheses: This study is designed to evaluate the prevalence and related factors of dyslipidemia among obese children and adolescent.<p c...