ESPE Abstracts

Background: Vitamin D dependent type 1 rickets is a rare, autosomal-dominantly inherited disorder due to an inactivating mutation in CYP27B1 (25-OH vitamin D-1-α-hydroxylase) gene. It is characterized by early onset of rickets with hypocalcemia. We report a boy admitted with symptoms of hypocalcemia and who carried a novel mutation in CYP27B1 gene.Case: The patient was admitted with tetany at the age of 12 months. When he had his first convulsion, h...

Background: The main purpose of insulin analogue treatment is mimicking physiologic insulin secretion and accomplishing a good glycemic control without having late hypoglycemia in patients with diabetes mellitus.Objective and hypotheses: In this report, 24 weeks follow-up results of newly diagnosed type 1 DM patients treated with insulin lispro and insulin glulisin is discussed.Method: Twelve patients diagnosed with type 1 DM patie...

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: Premature adrenarche is defined as the development of axillary and/or pubic hair in association of the DHEA-S concentrations >108.4 nmol/l (40 μg/dl) before the age of eight in girls.Objective and hypotheses: This retrospective study aimed to investigate the clinical presentation, metabolic status, growth velocity and pubertal timing of girls with premature adrenarche.Method: Medical records of 117 patients wer...

Background: The main reason of decrement of growth in children with Prader-Willi Syndrome (PWS) is dysfunction of hypothalamo-hypophseal axis (HHA) and a decrease in the capacity of secretion of growth hormone (GH). In fact, in some cases, GH levels are normal, so there may be other factors in the etiology.Objective and hypotheses: In this study, 19 months old PWS case with growth failure is represented.Method: 13 months old male p...

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...

Objective: The aim of this study was to evaluate demographic characteristics; clinical, laboratory, imaging features; and response to treatment of boys who were followed up and treated with the diagnosis of central precocious puberty (CPP) in Turkiye.Materials and Methods: The study was planned as a multicenter, retrospective study. Cases with a diagnosis of CPP, whose follow-up data were available were included. Patient...