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...

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 ...

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...