Searchable abstracts of presentations at key conferences in endocrinology

ea0019oc10 | Neuroendocrine and Steroids | SFEBES2009

PAPSS2 deficiency: a novel monogenic cause of androgen excess

Dhir V , Noordam C , McNelis J , Schlereth F , Hanley N , Krone N , Smeitink J , Smeets R , Sweep F , Claahsen-van der Grinten H , Arlt W

Androgen excess is a key feature of the polycystic ovary syndrome; however the molecular mechanisms underlying its pathogenesis largely remain elusive. Dehydroepiandrosterone sulfate (DHEAS) is the most abundant steroid in the human circulation but only unconjugated dehydroepiandrosterone (DHEA) can be converted to active androgens. Conversely, conversion of DHEA to its sulfate ester DHEAS by DHEA sulfotransferase, SULT2A1, diminishes the DHEA pool available for androgen gener...