Article
PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.
The Journal of clinical endocrinology and metabolism - 1 Apr 2015
Oostdijk Wilma, Idkowiak Jan, Mueller Jonathan W, House Philip J, Taylor Angela E, O'Reilly Michael W, Hughes Beverly A, de Vries Martine C, Kant Sarina G, Santen Gijs W E, Verkerk Annemieke J M H, Uitterlinden André G, Wit Jan M, Losekoot Monique, Arlt Wiebke
Abstract excerpt
CONTEXT: PAPSS2 (PAPS synthase 2) provides the universal sulfate donor PAPS (3'-phospho-adenosine-5'-phosphosulfate) to all human sulfotransferases, including SULT2A1, responsible for sulfation of the crucial androgen precursor dehydroepiandrosterone (DHEA). Impaired DHEA sulfation is thought to increase the conversion of DHEA toward active androgens, a proposition supported by the previous report of a girl with...
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