hrp0089p2-p001 | Adrenals and HPA Axis P2 | ESPE2018

Contribution of Direct Measurements of Steroids by Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS) in Non-classical Adrenal Hyperplasia (NCCAH)

Agnani Helena , Houang Muriel , Egether Thibaut , Netchine Irene , Lamaziere Antonin

Background: To diagnose non classical congenital adrenal hyperplasia (NCCAH) and adrenal insufficiency (AI), current guidelines recommend ACTH test. Cutoffs for 17 hydroxyprogesterone (17OHP) and cortisol are derived from immunoassays values. Thanks to a recently developed and validated mass spectrometry approach (LC-MS/MS) we routinely quantify simultaneously 16 circulating steroids and we are able to speculate on new cut off values and uses.<p class="abs...

hrp0089p1-p013 | Adrenals and HPA Axis P1 | ESPE2018

Role of Mast Cells in the Establishment of the Mineralocorticoid Pathway in the Developing Mouse

Naccache Alexandre , Louiset Estelle , Lamaziere Antonin , Thomas Michael , Arabo Arnaud , Lefebvre Herve , Castanet Mireille

Mast cells are known to control mineralocorticoid synthesis and secretion in human normal adrenal gland and aldosterone-producing adenomas through release of serotonin. We recently detected these immune cells in human fetal adrenal from 18 weeks of gestation in the subcapsular layer, in correlation with the expression of steroidogenic enzymes required for aldosterone biosynthesis. This observation suggests the implication of mast cells in the mineralocorticoid synthesizing pat...

hrp0095t10 | Section | ESPE2022

Aromatase Inhibitor (anastrazole) vs placebo delays bone age maturation in prepubertal children with Silver Russell or Prader-Willi Syndrome and pathological adrenarche

Dufourg Marie-Noëlle , Diene Gwenaelle , Cachanado Marine , Vu-Hong Thuy-Ai , Berard Laurence , Rousseau Alexendra , Soussi Nora , Pinto Graziella , Rouleau Stéphanie , Bernoux Delphine , Chalard François , Ducou Le Pointe Hubert , Lamaziere Antonin , Tauber Maite , Netchine Irène

Background: Silver Russell syndrome (SRS) is a rare imprinting disorder with prenatal and postnatal growth retardation and feeding difficulties. The main molecular causes are loss of methylation of the 11p15.5 imprinting control region (H19/IGF2) and maternal uniparental disomy of chromosome 7. Prader-Willi syndrome (PWS) is a complex neurodevelopmental imprinting disorder with neonatal muscular hypotonia, failure to thrive to insatiable appetite, sho...