ESPE Abstracts

There is no single conception of sex that covers the multitude of biological process that are commonly encompassed by the term and its cognates. Gonadal sex determination is sometimes known as 'primary' sex determination due to its centrality in our understanding of 'maleness' and 'femaleness'. In mammals, this is characterised by the sexually dimorphic development of an initially bipotential gonadal primordium in the fetus into either a testis or an ov...

Context: PPP2R3C encodes the B”gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of mammalian cells. We have recently reported homozygous and heterozygous mutations in PPP2R3C in patients with syndromic 46,XY complete gonadal dysgenesis (MEGD syndrome) and impaired spermatogenesis, respectively. In this study, we have further investigated th...

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 ...