ESPE Abstracts

Background: Klinefelter’s syndrome (KS) is the most prevalent chromosomal abnormality and clinically characterized by oligo-azoospermia, hypergonadotropic hypogonadism, gynecomastia and infertility in adults. Genital malformations in KS have rarely been reported.Objective and hypotheses: To investigate the etiology of penoscrotal hypospadias in a 14-month-old boy.Method: The patient was born from a healthy 23-year-old mother a...

Background: The melanocortin-4-receptor gene (MC4R) is a key regulator of energy homeostasis, food intake and body weight which has intensively been analyzed in molecular genetic obesity research. MC4R dysfunction in humans causes hyperphagia, impaired satiety and obesity.Objective and hypotheses: To identify MC4R mutations prevelance in Turkish obese children and adolescents.Method: Ninenty three pediatric and adolescent patients ...

Background: Kallmann syndrome (KS), the prototype of anosmic idiopathic hypogonadotropic hypogonadism (IHH), is charecterized with HH acompanied by anosmia, absence or hypoplasia of olfactory bulbus due to defective morphogenesis. Mutations in 10 genes have been reported to cause KS while can clarify the underlying molecular defect in about 30–50% of IHH/KS cases. Beside, PROK2 gene mutations are extremely rare cause of KS. Herein, we present KS due to a homozygo...

Background: Isolated GH deficiency (IGHD) may be due to several different causes. Mutations in the GHRH receptor (GHRHR) gene are a relatively rare cause of IGHD.Objective and hypotheses: To understand the molecular cause of severe short stature in a large highly consanguineous family with IGHD.Method: Affected patients were evaluated for GH secretion and other anterior pituitary function. Anterior pituitary size was measu...

Background: Congenital hyperinsulinism (CHI) causes severe hypoglycaemia in children, due to dysregulated insulin secretion from pancreatic β-cells. Glucagon, secreted from the pancreatic α-cells, is critical for blood glucose homeostasis. Somatostatin is secreted by Δ-cells of the islets and by extraislet neuroendocrine cells. Exogenous somatostatin potently inhibits insulin and glucagon release from pancreatic islets. Under normal physiological conditions, low...

Background: Type 1 diabetes mellitus (T1DM) is a common autoimmune condition in childhood and may be complicated by episodes of diabetic ketoacidosis (DKA). DKA is a state of severe insulin deficiency, resulting in hyperglycemia, ketonemia, acidemia, and systemic inflammation. This is predominantly attributable to intracerebral complications. We report a girl with a newly diagnosed T1DM who presented with DKA and cerebral infarction.Case: A 13-year-old p...

Background: Vitamin D dependent rickets type I (VDDR1) is an autosomal recessive disorder caused by mutations in the 25-Hydroxyvitamin-D3 1-α-hydroxylase gene(CYP27B1).Objective and hypotheses: To evaluate clinical characteristics and molecular genetic analysis of the pediatric patients with VDDR1 who were being followed at Diyarbakir Children’s State Hospital, Turkey.Method: VDDR1 diagnosis was consid...

Background: 46,XY DSD occurs as a result of testicular developmental disorders, defect in androgen synthesis or action. Nowadays, the diagnosis of DSD is quite costly and it takes a considerable amount of time due to lengthy hormonal and genetic analysis.Objective and hypotheses: The use of targeted next-generation sequencing of all known genes associated with 46 XY DSD for a fast molecular genetic diagnosis in patients in whom underlying defect of DSD w...

Background: There are limited data on differences in height, bone mineral density (BMD) and pubertal delay between homozygous and heterozygous carriers of IGFALS defects.Objective and hypotheses: To describe clinical and laboratory features and BMD of homozygous and heterozygous carriers of a novel IGFALS mutation in a large Kurdish family.Method: Index cases were two first degree cousins presenting with short stature, low IGF1, ve...

Introduction: Steroidogenic factor-1 (SF1/NR5A1) is a nuclear receptor, which regulates genes that have functions in the development of adrenal glands and gonads, reproduction, and other metabolic functions.Case presentation: A 20-day-old infant was admitted due to ambiguous genitalia. Physical examination revealed a 2×1 cm phallus, bifid scrotum, and hypospadias. Both gonads were palpable in the inguinal canal. Serum levels of adrenal androgens (17...