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...

hrp0082p1-d3-196 | Pituitary | ESPE2014

Rathke Cleft Cysts and Endocrine Dysfunction in Children

Dupre Marie , Brioude Frederic , Berard Laurence , Esteva Blandine , Houang Muriel

Background: Rathke’s cleft cysts (RCC) are benign lesions of the pituitary gland, remnants of Rathke’s pouch. RCC have rarely been reported in children and adolescents and are usually known as asymptomatic but some cases may be associated with hormonal disturbances.Objective and hypotheses: The aim of the study was to assess the characteristics and frequency of endocrine disturbances in children with RCC.Method: We retros...

hrp0092p1-303 | Adrenals and HPA Axis (2) | ESPE2019

Hypothalamo-Pituitary-Adrenal (HPA) Axis in Infants Exposed to Corticosteroids During Fetal Life

Auriche Morgane , Houang Muriel , Giabicani Eloise , Mitanchez Delphine , Netchine Irène

Background: Prednisolone, prednisone, and hydrocortisone, are used during pregnancy, in women with thrombocytopenia, auto immune or inflammatory diseases. The current belief speculates on the absence of adverse effects on the hypothalamo-pituitary-adrenal (HPA) axis of the fetus, thanks to placental 11BHSD2 inactivation.Objective and Hypotheses: We analyzed the results of ATCH tests routinely performed in neonates expose...

hrp0082p3-d1-812 | Growth | ESPE2014

Maternal Inheritance of an Heterozygous Exon 4 IGF1 Gene Mutation (g.65941 G>A) in an IUGR Child with Mild Post Natal Growth Retardation

Houang Muriel , Brioude Frederic , Azzi Salah , Thibaud Nathalie , Perin Laurence , Le Bouc Yves , Netchine Irene

Background: We already described a partial IGF1 primary deficiency due to an exon 4 homozygous missense mutation (g.65941 G>A). A few patients are now described with a heterozygous IGF1 deletion or mutation, questioning about IGF1 haplo insufficiency role in short stature.Results: We describe a boy born from consanguineous parents, with an intra uterine growth restriction (IUGR). Birth weight: 2520 g (−1 SDS) birth length: 46 ...

hrp0084p2-397 | GH &amp; IGF | ESPE2015

Silver Russell syndrome: A Cause of Partial IGF1 Resistance?

Dufourg Marie-Noelle , Perin Laurence , Houang Muriel , Daubard Marie-Laure , Brioude Frederic , Bouc Yves Le , Netchine Irene

Background: Silver-Russell syndrome (SRS) is characterized by intrauterine and postnatal growth retardation, relative macrocephaly at birth, prominent forehead, severe feeding difficulties and body asymmetry. In around 50%, it is secondary to hypomethylation at the IGF2/H19 imprinted locus on 11p15 (11p15 LOM), and in 10% to a maternal disomy of chromosome 7 (mUPD7). Mechanisms of postnatal growth failure in SRS are not well understood.Objective and hypo...

hrp0086p1-p688 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Thyrotoxicosis, Nephrogenic Syndrome of Inappropriate Antidiuresis, Tall Stature and Mental Retardation Caused by a Novel GNAS Gain of Function Mutation

Houang Muriel , Kottler Marie-Laure , Bensman Albert , Haymann Jean-Philippe , Richard Nicolas , Dunand Olivier , Bastepe Murate , Silve Caroline , Coudray Nathalie , Netchine Irene , Linglart Agnes

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a very rare clinical condition. Patients suffer from hyponatremia, hypo-osmolality with inappropriately elevated urinary osmolality and undetectable AVP levels. Activating mutations of AVPR2, the vasopressin receptor type 2 (V2R), induce a prolonged signaling of the intracellular cAMP/PKA pathway and cause NSIAD in patients.Objective and hypotheses: To describe a new phenotype in a...

hrp0082fc5.2 | Neuroendocrinology | ESPE2014

Mutations in the Maternally Imprinted Gene MKRN3 are a Frequent Cause of Familial Central Precocious Puberty

Mekhail Nancy , Ba Ibrahima , Simon Dominique , Paulsen Anne , Zenaty Delphine , Houang Muriel , Jesuran-Perelroizan Monique , de Filippo Gianpaolo , Salerno Maria Carolina , Carel Jean-Claude , Leger Juliane , de Roux Nicolas

Background: Recently, mutations in the maternally imprinted MKRN3 gene have been associated to familial idiopathic central precocious puberty (iPPC). The clinical phenotype and the frequency of these mutations are poorly described.Objective and hypotheses: Delineate the frequency of MKRN3 mutations in iPPC and perform a genotype–phenotype correlation in MKRN3 mutated patients.Method: 59 index cases with iPPC have been included...

hrp0095p2-264 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

StAR gene mutation : description of puberty development and genital life from 6 patients 46,XX with classic Congenital Lipoid Adrenal Hyperplasia.

Jardin-Millet Isabelle , Amouroux Cyril , Dufourg Marie-Noelle , Lambert Anne-Sophie , Bouvattier Claire , Parada-Bonte Fabienne , Reynaud Rachel , Demeinex Estelle , Courbiere Blandine , Albarel FrÉDÉRique , Netchine IrÈNe , Houang Muriel

Introduction: Congenital Lipoid Adrenal Hyperplasia (CLAH) is a severe deficiency of adrenal and gonadal steroidogenesis, caused by mutations in the StAR gene and the accumulation of cholesterol in the outer mitochondrial membrane due to steroidogenic acute regulatory protein (StAR) deficiency. Affected patients present peripheral adrenal insufficiency with early onset, and variable phenotypes at the age of puberty.Objective of o...