ESPE Abstracts

Background: Hyperinsulinaemic hypoglycaemia (HH) is a clinically and genetically heterogeneous group of disorders characterized by persistent hypoglycaemia due to inappropriate insulin secretion from the pancreatic β-cell.Aim: The objective was to analyze the demographic, clinical and genetic characteristics of patients with HH, diagnosed and/or treated at a tertiary endocrine center, part of the European referen...

Introduction: Disorders of sexual development (DSD) include etiologically heterogeneous group of patients that have disorders of genital development. Consensus guidelines that are currently used, divide all DSD in three main groups - sex chromosomal abnormalities, XX or XY DSD, all divided in subgroups in dependence of genetics and hormonal tests. The phenotypic spectrum of external genitalia, gonads and development of Wolfian and Mulerian duct derivatives var...

Objective: To summarize the clinical features and genetic characteristics of a patient with multiple endocrine neoplasia type 2B (MEN2B) and to review the literatures.Methods: We summarized clinical features, gene sequencing result, treatment and prognosis of a child suffered with MEN2B who was admitted to the Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine in February 2016. And...

Introduction: Mitchell Riley syndrome is a rare autosomal disorder, characterized by severe neonatal diabetes associated with hypoplastic or annular pancreas, duodenal or jejunal atresia, intestinal malrotation, gallbladder hypoplasia or agenesis, and cholestatic disease, less common features were reported such as severe neonatal anemia, hemochromatosis and biliary atresia.Mitchell-Riley syndrome is caused by a mutation in regulatory fac...

Introduction: Secondary hyperparathyroidism is a serious and expected complication in almost every patient with chronic kidney disease (CKD). Nevertheless brown tumors formed by osteoclasts are rarely found in this subtype of patients and are extremely rare in children with CKD. The most common localizations of brown tumors are the jaw and long bones. We aimed to present three clinical cases of brown tumors in children with CKD on hemodialysis observed in a single dialysis cen...

Introduction: Growth hormone (GH) treatment was approved in 2000 for patients with Prader-Willi syndrome (PWS). The main reason for its use was the improvement in body composition. As a result of 2 fatal episodes, it was decided to initiate it from 2 years of age arbitrarily. Average age of real start: 4-6years. GH per se is not a risk factor for mortality in PWS. The 2013 guideline recommends to star it as soon as possible, preferably under 2 years of age, when obesity is est...

Objective: To explore the clinical characteristics of diagnosis and treatment in patients with congenital tufting enteropathy.Method: A rare case of congenital tufting enteropathy was diagnosed at West China Second University Hospital, Sichuan University in July 2016, the clinical data of congenital tufting enteropathy was analyzed retrospectively, and the related literature were reviewed. Original papers on congenital tufting enteropathy published until...

Background: The standard pharmacological treatment strategy of thyroid storm according to 2016 Japan Society of Pediatric Endocrinology Guideline. Although thiamazole (MMI) is recommended be used as the first choice in Graves’ disease, the effect of propylthiouracil (PTU) to block the conversion from T4 to T3 in peripheral tissues encourages clinicians to use against thyroid storm in its very early phase, and switch to MMI later. Nevertheless, the optimal timing of the sw...

The new care paradigm for DSD promoted by the Chicago Consensus of 2005 raised many psychological challenges, the most important being the way decisions regarding the sex of rearing and diagnosis communication are made. The traditional care paradigm, sustained by a binary sex categorization, suggested that for newborns, the decision about the sex of rearing should be made as soon as possible and no later than 18 months of life and that little should be said to the involved per...

Background: Leprechaunism, due to a mutation of both alleles of insulin receptor gene, is a most severe and precociously life-threatening condition, difficult to treat.Objective and hypotheses: In leprechaunism rhIGF1 may replace insulin through I the insulin-like metabolic properties of its own receptor.Method: rh IGF1 was continuously subcutaneously administered through a.pump from the age of four months and adjusted according to...