ESPE Abstracts

Introduction: Mucopolysaccharidoses (MPS) are lysosomal storage diseases. The frequency of endocrinological problems such as osteoporosis and hypothyroidism among children with MPS is not known and there are limited studies. In this study, the clinical findings, bone health and other endocrine functions of patients with MPS diagnosis and access to current treatments were retrospectively evaluated.Materials and Methods:Th...

Background/Aim: Prediction of metabolic syndrome (Mets) plays important role in cardiovascular disease risk prevention. Although Mets is relatively common in children with T1DM, diagnosis and prediction are ignored. Visceral Adiposity Index VAI) has been defined as a new cardiometabolic risk marker reflecting abdominal fat distribution and dyslipidemia. The aim of the study is to reveal the relationship between Mets and components of VAI in patients with T1DM....

A 13-year-old patient was admitted due to delayed puberty. Ovary and uterus had not seen in USG and MRI. On physical examination; body weight: 57 kg (79 P), height 157.7 cm (45P), BMI: 22.9 (83P), TA: 120/80 mmHg. The patient was externally in female appearance and there was no puberty development. Labia minora was seen. The urethral and vaginal openings were in the vestibulum and bilateral gonads could not be palpated in the inguinal canal. Mother and father was cousin. Fathe...

Background/Aim: Type 1 diabetes Mellitus (T1DM) often presents with clear clinical signs after a long-term asymptomatic autoimmune process. This long and silent period has been leading to an increase in awareness day by day in order to prevent and predict the development of the disease. Among the well-known genetic and environmental risk factors, close relatives of the index cases constitute a population that is quite suitable for predicting and preventing the...

Polycystic ovary syndrome is the most common endocrinological disease in women of reproductive age. Although it is thought that pathologies such as insulin resistance, chronic low-level inflammation and hyperandrogenism are central theme of the disease, the exact pathophysiology of the disease has not been fully understood. This study’s aim is to reveal the relationship between routine endocrinological and immunological markers related to chronic inflammation, and to inv...

Background and objective: The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnanolone which is catalyzed by the P450scc side chain cleavage enzyme (encoded by CYP11A1 gene-SCC). Homozygous recessive mutations of the CYP11A1 gene cause a global steroid hormone deficiency thereby disorders of sexual development in 46, XY individuals with a variable phenotype depending on the mutation characteristics. About 60 cases of SCC...

Objective: Cystic fibrosis (CF) associated diabetes (CFRD) is a common comorbid condition in individuals with CF and its prevalence increases with age. There are reports in children aged 10 years and younger. The aimof this study was to estimate insulin resistance by HOMA-IR (Homeostatic Model Assessment) with oral glucose tolerance test (OGTT) data and Matsuda index to test glucose metabolism in relation to Matsuda insulin secretion in children with CF.<p...

Aim: Homozygous mutations in the HAX1 gene have been described in autosomal recessive severe congenital neutropenia (CN). In this rare disease, ovarian failure has been reported only in 9 female patients in the literature. There is insufficient data on childhood patients with HAX1 deficiency and the age of onset of ovarian failure is unknown. The aim of this cross-sectional study was to evaluate the gonadal functions and pubertal development in paedia...