ESPE Abstracts

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause of severe hypoglycaemia in children. Although CHI arises from mutations in KATP channels which lead to inappropriate insulin secretion, CHI it also is associated with marked changes in islet organization.Aims and objectives: Our aim was to investigate the structure and composition of the islet capsule in CHI and age-matched control tissue.Me...

Introduction: Thalassemia is an autosomal recessive inherited disease that requires frequent blood transfusion. The life expectancy of thalassaemic children improved with regular blood transfusion and chelating agents. Hemosiderin precipitation in endocrine glands of patient with Transfusion Dependant Thalassaemia (TDT) leads to progressive gland dysfunction. The adrenal insufficiency is one of the complications that results from iron deposition either in the ...

In adolescence, diagnosis of polycystic ovary syndrome (PCOS) is challenging because characteristics of normal puberty often overlap with signs and symptoms of PCOS. Anti-Müllerian hormone (AMH) is one of the important biomarkers suggested to confirm the diagnosis of PCOS and to manage the treatment process in adolescence. The aim of this study was to evaluate the diagnostic role of anti-müllerian hormone for PCOS in adolescent females, and to study its association t...

Background: There exists limited data regarding genetic etiology of hypophosphatemic rickets in Turkey.Objective and hypotheses: To investigate the type of genetic defect in 16 index children and their families (12 unrelated, 1 related).Method: Following clinical and laboratory assessment, PHEX analysis was made initially unless a mutation in another gene was suspected. If negative, FGF23, SLC34A3, SL...

Background: The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause a rare autosomal recessive disorder, vitamin D-dependent rickets type 1A.Objective and hypotheses: To investigate CYP27B1 mutations in children when rickets was associated with normal or high vitamin D levels and low or inappropriately normal calcitriol levels.Method: All coding exons and intron-exon boundari...

Background: Mutations in the human GH receptor gene (GHR) are the most common cause of GH insensitivity (GHI) syndrome and IGF1 deficiency. The extracellular domain of GHR (encoded by exons 2–7 of the GHR gene) can be proteolytically cleaved to circulate as GH-binding protein.Objective: To evaluate the cause of classical GHI (Laron) phenotypes in two siblings and their parents.Method: We observed clinical characteristics of tw...

Background: Vaptans, vasopressin receptor 2 antagonist, are used in adults to treat hyponatremia associated with congestive heart failure, cirrhosis, and the syndrome of inappropriate antidiuretic hormone (SIADH). To date, in paediatric patients with SIADH there are few data about use of vaptans, still considered off-label.Case presentation 1: A 9-yo female with surgically treated suprasellar astrocitoma developed chronic hyponatremia (121–128 mmol/...