ESPE Abstracts

Introduction: Beta thalassemia major (βTM) is an autosomal recessive anemia characterized by a defect in the production of the β-globin chain of hemoglobin. There may be endocrine problems secondary to hemochromatosis in the clinical follow-up of the patients. Here, a case who was followed up with the diagnosis of βTM, consulted for primary amenorrhea and diagnosed with 5-alpha reductase deficiency (5ARD) is presented and clinical follow-up expe...

Background & Objective: Hyperinsulinism-Hyperammonaemia (HI/HA) syndrome is the second most common type of congenital hyperinsulinism (CHI) in outbred populations. HI/HA is caused by an activating mutation in the GLUD1 gene which encodes the intra-mitochondrial enzyme glutamate dehydrogenase (GDH).The aim of this study was to determine the clinical presentation, treatment and risk factors of neuro-developmental disorders in ...

Background: Many cross-sectional studies have demonstrated that serum testosterone concentration is an important biochemical predictor of bone mineral density in young males, but to our knowledge, no longitudinal studies have been carried out to support these cross-sectional data.Aims: to examine the associations between serum testosterone concentration at the age of 12 and the following gain in bone mineral density unti...

Introduction: Worldwide the Short Synacthen Test (SST) is the most popular diagnostic investigation for adrenal insufficiency (AI) amongst both paediatric and adult endocrinologists. Cannulation and blood sampling are required making it invasive, time-consuming and resource-intensive. We have previously validated a reliably absorbed and well tolerated formulation of nasal synacthen (Nasacthin003) in healthy adult males, measuring the glucocorticoid response in salivary cortiso...

Objective: AMH causes fetal paramesonephric duct regression and is involved in testicular development and function. Sertoli cell AMH remains high during childhood until puberty. The appendix testis (AT), a remnant of the paramesonephric duct, contains both androgen and estrogen receptors. AT androgen receptors have been reported to play a role in embryonic testicular descent. The AT is commonly resected during orchiopexy and abdominal surgery as possible torsion in the future ...

Background: Most reports on gonadotoxicity associated with chemotherapy of acute lymphoblastic leukemia (ALL) comes from studies in adults, and they are mainly focused on the sensitivity of testicular germ cells. Little attention has been placed on Sertoli cells in prepubertal patients, even though Sertoli cell function is essential for adult spermatogenesis.Objective: To evaluate Sertoli cell function in prepubertal boys who receive chemotherapy for ALL...

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia which needs a prompt diagnosis and relevant treatment to avoid brain damage. So far, mutations in 11 key genes are known to cause monogenic forms of HI.Objective and hypotheses: The aim of this study was to characterize the clinical and molecular features of Turkish congenital HI patients and analyze the genotype/phenotype correlations.M...

Background: Congenital hyperinsulinism (CHI) is a rare condition characterized by unregulated secretion of insulin from pancreatic islet β cells. The primary treatment goal is to obtain normoglycemia, since hypoglycemia in the neonatal period can have severe impact on cerebral development.Objective and hypotheses: To assess the cerebral function in children with CHI at follow up.Method: From an international cohort, 40 childre...

Background: Honey is known for its medicinal and health promoting properties. It contains phytochemicals with high phenolic and flavonoid content, which contribute to its high antioxidant activity. Recent studies performed in adult healthy subjects suggest that honey has a beneficial effect on plasma glucose and serum insulin concentrations compared with monosacharides and disaccharides from different sources.Objective/hypotheses: To compare the effects ...

Background: Deficiency of 11β-hydroxylase is the second most frequent type of congenital adrenal hyperplasia and more common in Turkey than other populations.Objective and hypotheses: The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish population.Method: 17 patients from 13 families are included in this study. Diagnosis was based on virilisation and high levels of 11-deoxycortisol. 15 case...