ESPE Abstracts

Background: Alterations in the timing or expression level of players involved in sex determination and differentiation can cause disorders of sex development, gonadal dysgenesis and germ cell neoplasms later in life. The mitosis–meiosis switch is one of the first manifestations of female sex differentiation and we hypothesise that a conflict between meiosis-inhibiting (male pathway) and meiosis-inducing signals (female pathway) is one of the possible mechanisms for disrup...

XY individuals with Disorders/Differences of Sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or, more rarely, testis regression during early fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown. Identification of novel genes involved in DSD is crucial for providing an accurate clinical diagnosis, aiding ...