ESPE Abstracts

Background: Disorders of sex development (DSD) are classified as a congenital discrepancy between external genitalia, and gonadal and chromosomal sex. Despite extensive laboratory and imaging investigations, the etiology of DSD is unknown in more than 50% of patients. We aimed to evaluate the etiology of DSD using whole exome sequencing (WES) technique.Methods: Eleven patients with DSD (ten with 46,XY and one with 46...

Background: GLIS3 is a transcription factor involved in the development of pancreatic β-cells, the thyroid, eyes, liver and kidneys. In the pancreas, GLIS3 is expressed at various stages of ductal and endocrine cell development, and is a critical regulator of β-cell development and insulin expression. Mutations in GLIS3 have been recently described as a rare cause of neonatal diabetes and congenital hypothyroidism (CH), reported in only 20 ...

Classical growth hormone insensitivity (GHI) is caused by a defect of the growth hormone receptor and is characterized by severe postnatal growth failure, craniofacial disproportion, IGF-I deficiency and normal or elevated levels of growth hormone. This is a rare condition. With the development of new genetic techniques during the last two decades other monogenetic defects resulting in milder forms of GHI have been identified. These include genes involved in the GH-IGF-I axis:...

45,X/46,XY mosaicism is a rare karyotype and patients present with varying phenotypes from Turner females to males. Genital phenotype, gonadal function and histology, and growth are all affected to varying degrees by the karyotype. Information on these long-term outcomes is scarce and larger multicenter studies are needed. Therefore, in collaboration with 17 centers, we performed a study including 59 post-pubertal males that had reached adult height. Centers were identified an...

Background: This multi-country study, conducted in the USA, is also ongoing in France, Germany, Brazil and South Korea (52 healthcare professionals (HCPs) and 30 patients/caregivers in total). The new device consists of a reusable aluminium body and cap, with a multi-use cartridge system, viewing window, dose-display window, dose-selection knob and injection button.Method: Semi-structured 60-min qualitative interviews were conducted in six major US citie...

Background: Medullary thyroid cancer (MTC) in MEN 2A is caused by mutations in RET. Guidelines (2001/2009/2015) recommend prophylactic total thyroidectomy (TT) based on mutation specific risk levels (ATA 2015: high/moderate).Objective: The aim of this study was to analyse changes of age at TT, frequency of metastatic MTC (MMTC), and frequency of TT according to guidelines since introduction of RET testing in 1995....

A ten year old girl was brought by the emergency mobile service for a persistent status epilepticus despite administration of Diazepam on site. She had presented headaches for the last three days and one episode of fever was suspected but not measured four days earlier. She had one episode of dizziness five days earlier.Persistent status epilepticus required invasive ventilation as well as deep sedation with Levetiracetam, Midazolam, ketamine, phenytoin,...

Background and hypotheses: Recent results showing elevated tetrahydrocortisol/tetrahydrocorticosterone ratio (THFs/THE) in morning urines of diabetic children compared to controls suggest an increased nocturnal activity of 11 β-hydroxysteroid dehydrogenase type 1 (11β-HSD1). We made the hypothesis that a reduced inhibition of hepatic 11β-HSD1 activity by exogenous insulin, due to its subcutaneous (SC) administration and absence of first hepatic passage, could ex...

Background: The deciphering of the physiological importance of the GH secretagogue receptor (Ghsr), a G protein-coupled receptor (GPCR) depicted as the sole receptor of the pleiotropic hormone ghrelin, was initially compromised by the modest phenotype observed in Ghsr−/− animals. This lack of a robust response to total loss of Ghsr may result from developmental compensatory signals. Still, the description of rare mutations in the GHSR p...

Background: Homozygous or compound heterozygous mutations of gene CYP24A1 have recently been reported to cause idiopathic infantile hypercalcemia due to increased intestinal absorption of calcium. However, an autosomal dominant transmission with partial penetrance of the trait was also suggested.Objective and hypotheses: Evaluation of the frequency of CYP24A1 mutation and evaluation of the impact of heterozygous mutation on calcium meta...