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...

hrp0095p1-183 | 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...

hrp0097p1-281 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Steroid secretion and morphological aspects of fetal adrenal before/after freezing/thawing and 14 days in organotypic culture

Renault Lucie , Labrune Elsa , Giscard d'Estaing Sandrine , Bideault Valeska , Schneider Grégoire , Mure Pierre-Yves , Lalli Enzo , Doghman-Bouguerra Mabrouka , Dijoud Frédérique , Lejeune Hervé , Plotton Ingrid

Introduction: The human fetal adrenals (HFA) produce high levels of steroids. The gland is distinguishable from the 7th gestational week and can be separated in two zones: the fetal zone in the center which correspond of 80 % of the gland and the definitive zone in the periphery. At this time of the development, neural crest cells are reaching the adrenal primordium, producing catecholamines. A third zone, the transitional zone appears later in the early 2nd t...