ESPE Abstracts

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...

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...

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...