hrp0092hdi2.2 | How Do I Session 2 | ESPE2019

How Do I Diagnose Growth Hormone Insensitivity

Walenkamp Marie-Jose

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:...

hrp0089wg1.1 | ESPE Disorders of Sex Development & Turner Syndrome Joint Session | ESPE2018

Long-Term Outcomes in Males with 45,X/46,XY Mosaicism: A Multicenter Study of 59 Males

Ljubicic Marie Lindhardt

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...

hrp0086p2-p670 | Growth P2 | ESPE2016

A New Reusable Manual Pen Device for Injection of Human Growth Hormone: Results of a Convenience and Functionality Evaluation Study

Sauer Maritta , Castel Marie-Nathalie

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...

hrp0086p1-p900 | Thyroid P1 | ESPE2016

Meta-analysis of Children with Multiple Endocrine Neoplasia (MEN) Type 2A from 1995-2014: Impact of RET Mutation Screening on Age at Thyroidectomy and Frequency of Metastatic Disease

Burckhardt Marie-Anne , Zumsteg Urs , Szinnai Gabor

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....

hrp0092p3-254 | Thyroid | ESPE2019

Encephalitis Associated with Autoimmune Thyroiditis: A Rare Cause of Encephalopathy In Children

Fudvoye Julie , Lebrethon Marie-Christine , Leroy Patricia , Seghaye Marie-Christine , Parent Anne-Simone

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,...

hrp0086fc5.2 | Management of Disorders of Insulin Secretion | ESPE2016

Diabetes and Insulin Injection Modalities: Effects on Hepatic Expression and Activity of 11β-Hydroxysteroid Dehydrogenase Type 1 in Juvenile Diabetic Rats

Rougeon Veronica , Moisan Marie-Pierre , Barthe Nicole , Beauvieux Marie-Christine , Marissal-Arvy Nathalie , Barat Pascal

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...

hrp0082fc8.5 | Fat Metabolism | ESPE2014

Putative Gain-of-Function in Rats Carrying the Ghsr Q343X Mutation

Zizzari Philippe , Chebani Yacine , Chettab Khadidja , Pastor Marie , Korostelev Marie , Epelbaum Jacques , Tolle Virginie , Pantel Jacques

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...

hrp0082p1-d3-46 | Bone (1) | ESPE2014

Loss of Function CYP24A1 Mutations in Patients with Hypercalcemia and Low Pth level: an Autosomal Dominant or Recessive Trait?

Molin Arnaud , Baudouin Roseline , Coudray Nadia , Figueres Marie-Lucille , Jones Glennville , Kottler Marie-Laure

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...

hrp0086rfc14.1 | Growth : Mechanisms | ESPE2016

Important Contribution of GH, GHRHR and GHSR Mutations in Isolated Growth Hormone Deficiency with a Normal Location of the Posterior Pituitary –Functional Characterization of New Variants

Cohen Enzo , Sobrier Marie-Laure , Dastot Florence , Collot Nathalie , Rose Sophie , Soleyan Aude , Vie-Luton Marie-Pierre , Duquesnoy Philippe , Copin Bruno , Amselem Serge , Legendre Marie

Background: Although growth hormone (GH) and the GH releasing hormone receptor (GHRHR) are known as etiologic factors in non-syndromic isolated growth hormone deficiency (IGHD), very few mutations have been identified in this rare condition (accounting for only 6–12.5% and 0–6.7% of IGHD cases depending on studies). The functional consequences of the identified variants have rarely been assessed.Objective and hypotheses: To assess the contribut...

hrp0092p1-257 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Fetal and Post-Natal Growth are Impaired in Children with Deletions of the GH1 Gene: Description of a Cohort of 14 Patients

Darvish Elsa , Legendre Marie , Netchine Irene , Amselem Serge , Brioude Frederic

Data on the birth parameters of patients with growth hormone deficiency are contradictory; recent studies suggest that congenital growth hormone deficiency is associated with impaired fetal growth. The main objective of this study was to describe the birth parameters of children with GH-1 gene deletion.This study included 13 patients (of 10 families) for whom a homozygous (or compound heterozygous) deletion of the entire GH1 gene has been identi...