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....

hrp0095fc6.4 | Sex Development and Gonads | ESPE2022

FATE-1 expression during human fetal testis development, in prepubertal boys and in infertile men

Renault Lucie , Dijoud Frederique , Teoli Jordan , Lejeune Herve , Lalli Enzo , Doghman-Bouguerra Mabrouka , Plotton Ingrid

Recently, knowledge about the molecular genetic of male infertility has increased. However, in many cases, the etiology of infertility remains unknown. The Cancer/testis antigen: Fetal and Adult Testis Expressed (FATE-1), mainly expressed in human testis has been described two decades ago for his potential role in male infertility. FATE-1 is located on the X chromosome, contains a putative SF1 binding site and is co-expressed with SRY in human fetal testis. To date, only few d...

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 ...

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...

hrp0095p1-414 | Adrenals and HPA Axis | ESPE2022

A short intragenic inversion in CYP11B1 gene involved in a 46,XX virilizing congenital adrenal hyperplasia: interest of cross-use of targeted massively parallel and Sanger sequencing.

Janot Clément , Ladjouze Asmahane , Choron Kévin , Teoli Jordan , Plotton Ingrid , Mallet Delphine , Roucher-Boulez Florence

Background: Steroid 11-β hydroxylase deficiency is the second most frequent cause of adrenal hyperplasia (CAH) with autosomal recessive inheritance. Girls have importantly virilized external genitalia at birth, and boys display precocious pseudopuberty. Unlike others enzymatic deficiency involved in CAH, there is no salt wasting during infancy but patients develop hypertension. Because of more than 90% of homologous sequence between CYP11B1 gene ...

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 ...

hrp0086rfc7.2 | Gonads & DSD | ESPE2016

Reference Values for External Genitalia Size and Steroid Hormone Levels in Female Neonates

Castets Sarah , Plotton Ingrid , Nguyen Kim-An , Plaisant Franck , Prudon Malika , Laborie Sophie , Souillot Marie , Roche Sylvain , Ecochard Rene , Claris Olivier , Morel Yves , Nicolino Marc , Gay Claire-Lise

Background: Prenatal androgen exposure can lead to variable virilization of external female genitalia. The lack of a consensus definition of clitoromegaly and the limited data available on normal steroid levels in female neonates makes its diagnosis difficult.Objective and hypotheses: The aims of this study were (i) to define reference sizes for external female genitalia in term and preterm neonates as a function of gestational age and birth weight; and ...

hrp0086p2-p422 | Gonads & DSD P2 | ESPE2016

Late Clinical Presentation, Biological Assessment and Management of PAIS in a Developing Country

Brindusa Gorduza Daniela , Tambo Mouafo Faustin , Gay Claire-Lise , Plotton Ingrid , Birraux Jacques , Dahoun Sophie , Morel Yves , Mouriquand Pierre , Le Coultre Claude , Mure Pierre-Yves

Background: Partial androgen insensitivity syndromes (PAIS) are rare 46,XY DSD (disorder of sex development).Objective and hypotheses: Three families with PAIS (six patients) are reported, focusing on their phenotype and treatment depending on sex of rearing. Biological investigations and surgical management are described.Method: Between 2009 and 2015 a consultation for uro-genital malformations in pediatric patients was set up in ...

hrp0095p1-183 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Testicular sperm extraction in a patient with a new pathogenic NR5A1 (SF-1) variant : p.Phe70Serfs*5

Teoli Jordan , Mallet Delphine , Renault Lucie , Gay Clair-Lise , Lornage Jacqueline , Bertrand Anne-Marie , François Murielle , Theret Claire , Giscard d'Estaing Sandrine , Cuzin Béatrice , Dijoud Frédérique , Roucher-Boulez Florence , Plotton Ingrid

Background: Steroidogenic Factor 1 (SF-1), encoded by NR5A1 (Nuclear receptor subfamily 5 group A member 1) gene, is a transcriptional factor that is primordial for adrenal and gonadal organogenesis. Pathogenic variants of NR5A1 are responsible for a wide spectrum of phenotypes with autosomal dominant inheritance, from adrenal insufficiency to gonadal dysgenesis and oligospermia-azoospermia in 46,XY patients.Obj...