ESPE Abstracts

Background/Aim: Diabetes with extra-pancreatic features in children can have a monogenic aetiology. Single gene testing is undertaken when children present with the characteristic clinical features suggestive of the underlying aetiology. We aim to assess the utility of comprehensive genetic testing for all monogenic diabetes genes in children with diabetes and any non-autoimmune extra-pancreatic features from a population with a high rate of consanguinity.<p class="abstext...

Background: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires accurate diagnosis and urgent treatment. Congenital adrenal hyperplasia is the most common cause of PAI in children. Non-CAH causes of PAI are relatively rare. Although several molecular causes have been found, it is emerging that considerable overlap in the clinical and biochemical features of these conditions exists.Objective and hypotheses: We inv...

Introduction: Robinow syndrome is a rare autosomal recessive and autosomal dominant disorder affecting the whole skeletal system. Autosomal recessive robinow syndrome is characterized by shortness of the long bones and vertebra anomalies. Less than 200 cases of autosomal recessive robinow syndrome have been reported in the literature.Case: The newborn was referred to pediatric endocrine clinic for disorder of penis devel...

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...

Objective: Congenital Hyperinsulinism(CHI) is a clinically, genetically, and histologically heterogeneous disease. Turkey is a county with highly prevalent cases of severe CHI due to the high rate of consanguinity and recessively inherited KATP gene mutations. We herein evaluated the clinical characteristics, molecular genetic analysis, and follow-up of a large nationwide cohort of CHI from Turkey.Patients and method: Th...

Background and objective: Delayed puberty is defined as a lack of the physical signs of puberty in boys by 14 years or beyond the reference age of population standards. This study aims to evaluate the pubertal development and final height (FH) outcome in patients presented with delayed puberty due to hypogonadotropic hypogonadism (HH) and constitutional delay in growth and puberty (CDGP).Design and participants: The hosp...

Congenital rubella infection is a transplacental infection that can cause intrauterine growth retardation, cataract, patent ductus arteriosus, hearing loss, microcephaly, thrombocytopenia and severe fetal injury. It has been shown that type 1 diabetes mellitus develops in 12–20% of patients with congenital rubella infection and disorder in oral glucose tolerance test is observed in 40%. A 13-year-old male patient presented with complaints of new-onset polydipsia, urinatio...

Background: Hyperuricemia has been found to be associated with non-alcoholic fatty liver disease (NAFLD).Aim: The aim of this study was to evaluate whether allopurinol affects the course of experimental NAFLD in rats.Study Design: Mature, albino Sprague Dawley rats were fed water containing 30% fructose without ethanol for up to 8 weeks. After demonstration of steatosis in the 8th week, either allopurinol or saline was administered...

Objective: Glioblastoma 2 (encoded by GLI 2 gene), is an activating zinc-finger transcription factor, involved in the Sonic Hedgehog pathway and embryogenesis of diencephalon and distal extremities Heterozygous mutations of GLI2 gene cause a wide range of clinical phenotype known as holoprosencephaly and holoprosencephaly-like syndrome, pituitary insufficiency, mid-facial hypoplasia, and polydactyly. We, herein, report a novel heterozygous IV...

Background: The melanocortin-4-receptor gene (MC4R) is a key regulator of energy homeostasis, food intake, and body weight which has intensively been analysed in molecular genetic obesity research. MC4R dysfunction in humans causes hyperphagia, impaired satiety and obesity. Most patients are heterozygotes, with some reports of homozygotes and compound heterozygotes.Objective and hypotheses: A 2-year-old boy with progressive weight gain from infa...