hrp0086p2-p395 | Gonads & DSD P2 | ESPE2016

Evaluation of Anti-Mullerian Hormone (AMH) Assay Roche® on Umbilical Cord Blood: Determination of Reference Values in Girls and Boys Newborn

Vasseur Damien , Kolenda Camille , Morel Yves , Plotton Ingrid

Background: Anti-Mullerian hormone (AMH) concentration is now well studied for prepubertal boys (Plotton, 2009, 2012) or women in reproductive medicine, but there is few data about reference value in newborns. This dosage could be helpful for the management of disorders of sex development.Objective: The objective was to determine reference values of AMH on umbilical cord blood and to compare the values to DSD new born diagnosed during the evaluation....

hrp0084p2-536 | Puberty | ESPE2015

Ultra-Deep Next-Generation Sequencing: A reliable Method for the Molecular Diagnosis of McCune Albright Syndrome

Mallet-Motak Delphine , Roucher-Boulez Florence , Nicolino Marc , Morel Yves

Background: The molecular diagnosis of McCune Albright syndrome (MAS) is difficult because the detection of somatic GNAS1 mutations is usually performed in blood, in which the fraction of mutated allele could be barely detectable. To improve the usual techniques (selective enrichment, either with nested PCR and enzymatic digestion or with use of peptide nucleic acid probes), and to avoid technical problems like contamination, a new approach using next generation seque...

hrp0092p1-296 | Adrenals and HPA Axis (2) | ESPE2019

Three Novel Mutations of the StAR Gene in Five Algerian Patients Presenting with Classical and Non-Classical Lipoid Adrenal Hyperplasia

Ladjouze Asmahane , Mallet Delphine , Demdoum Mohamed , Bouzerar Zair , Morel Yves , Roucher-Boulez Florence

Background: StAR deficiency is a rare cause of primary adrenal insufficiency (PAI), with fewer than 100 cases reported worldwide. The first patients to be described suffered from severe forms of lipoid adrenal hyperplasia leading to severe undervirilization in 46,XY foetuses. More recently, however, less severe forms, known as "non-classical" or "atypical lipoid adrenal hyperplasia", presenting with PAI with salt wasting (SW) syndrome and norma...

hrp0086p1-p28 | Adrenal P1 | ESPE2016

Combined Glucocorticoid and Mineralocorticoid Deficiency Related to a New NNT Mutation: A Case Report

Doye Emilie , Roucher-Boulez Florence , Gay Claire-Lise , Castets Sarah , Nicolino Marc , Morel Yves

Background: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by specific failure of adrenocortical glucocorticoid production in response to adrenocorticotropic hormone (ACTH). Mutations of the nicotinamide nucleotide transhydrogenase (NNT) gene have recently been implicated in FGD.Objective and hypotheses: To describe a new case of FGD with combined mineralocorticoid insufficiency and extra adrenal manifestations....

hrp0086p2-p411 | Gonads & DSD P2 | ESPE2016

Phenotypic and Hormonal Variability in 46,XY Subjects with SF-1 Mutations

Dillies Natacha , Brasseur Aurelie , Rouleau Stephanie , Metz Chantal , Naud-Saudreau Catherine , Morel Yves , Coutant Regis

Background: 46,XY patients with SF-1 mutations have sex reversal or ambiguous genitalia (with or adrenal insufficiency) due to dysgenetic testis. In most cases, a severe defect in testosterone (T) production has been found. We described here 3 cases showing the variability in T production.Results: Case 1: A was seen at the age of 17 years for primary amenorrhea. Tanner stage was B2PH3. External genitalia were normal. FSH was 55 IU/l, LH 17 IU/l,...

hrp0082p1-d2-8 | Adrenals & HP Axis | ESPE2014

Normal Value of Steroids in Amniotic Fluid by LC–MS/MS Method

Plotton Ingrid , Ruet Severine , Rigaud Chantal , Till Marianne , Sanlaville Damien , Morel Yves

Background: Determination of steroids in amniotic fluid (AF; Forest et al., J Clin Endocrinol Metab, 1980) has been essentially used in the three past decades for the prenatal diagnosis of 21-OH deficiency. With the recent advances of ultrasound technology (US) and the widespread use of amniocentesis, prenatal diagnosis of DSD appears more common especially if a mismatch between karyotype and external genitalia detected by US occurs. An accurate and specific ...

hrp0084p1-6 | Adrenal | ESPE2015

Genetic Diagnosis of Congenital Primary Adrenal Insufficiency by Massive Parallel Sequencing

Boulez Florence Roucher , Motak Delphine Mallet , Guerrin Elsensohn Mad-Helenie , Bardel Claire , Roy Pascal , Morel Yves

Background: Congenital primary adrenal insufficiency (PAI) can occur as three types: isolated glucocorticoid or mineralocorticoid deficiency, or global adrenal insufficiency, with combined mineralo and glucocorticoid deficiency. Once the most frequent genes (CYP21A2, ABCD1…) have been discarded by biological tests, many other genes may be involved in each type, and one gene may be responsible of different types. Consequently, there is no real decision tree in th...

hrp0084p2-169 | Adrenals | ESPE2015

References Values Under Synacthen Test for Six Steroids in Serum by LC-MS/MS

Souillot Marie , Plotton Ingrid , Rigaud Chantal , Tardy Veronique , Ruet Severine , Morel Yves

Background: The response to ACTH test (synacthen®) is a very useful for the screening of steroidogenesis enzymatic deficiency. With the development of steroid quantification by LC-MSMS more specific than most of immunoassays, the determination of reference value is required at basal and under stimulation time.Objective and hypotheses:: The aim of this study is the determination in the same extraction and chromatography after Synacthen references val...

hrp0094p2-47 | Adrenals and HPA Axis | ESPE2021

Clinical, biological and genetic aspects of congenital adrenal hyperplasia in children at the Central Army Hospital in Algiers

Iabbassen Malek , Bensalah Meryem , Tardy-Guidollet Veronique , Menassa Rita , Morel Yves , Ouldkablia Samia Khadidja ,

Context: Congenital adrenal hyperplasia (CAH) is a rare genetic defect. Its prevalence is estimated at one case per 3,000 births in Algeria and one case per 15,000 births worldwide. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located at chromosome 6p21. Molecular defects of CYP21A2 systematically decrease the activity of this enzyme and result in expression of varying severity and phen...

hrp0086p2-p385 | Gonads & DSD P2 | ESPE2016

A Familial form of DSD due to NR5A1 Mutation in a Father and His Son

Gay Claire-Lise , Gorduza Daniela , Brac de la Perriere Aude , Plotton Ingrid , Mouriquand Pierre , Nicolino Marc , Morel Yves

Background: NR5A1 mutations in 46,XY patients lead to various degrees of disorders of sex development (DSD). Familial cases have been described where the mother (heterozygous for the mutation) presented primary ovarian failure. Little is known about testicular function at puberty but most patients have biological markers of gonadal dysgenesis, raising fears of infertility.Objective and hypotheses: To describe a familial form of DSD due to NR5A1 mutation ...