PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations | Zendy

Wilma Oostdijk | Zendy; Jan Idkowiak | Zendy; Jonathan Wolf Mueller | Zendy; Philip J House | Zendy; Angela E. Taylor | Zendy; Michael OʼReilly | Zendy; Beverly Hughes | Zendy; Martine C. de Vries | Zendy; Sarina G. Kant | Zendy; Gijs W.E. Santen | Zendy; Annemieke J.M.H. Verkerk | Zendy; André G. Uitterlinden | Zendy; Jan M. Wit | Zendy; Monique Losekoot | Zendy; Wiebke Arlt | Zendy

Open Access

PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations

Author(s) -

Wilma Oostdijk,

Jan Idkowiak,

Jonathan Wolf Mueller,

Philip J House,

Angela E. Taylor,

Michael OʼReilly,

Beverly Hughes,

Martine C. de Vries,

Sarina G. Kant,

Gijs W.E. Santen,

Annemieke J.M.H. Verkerk,

André G. Uitterlinden,

Jan M. Wit,

Monique Losekoot,

Wiebke Arlt

Publication year - 2015

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2014-3556

Subject(s) - endocrinology , medicine , dehydroepiandrosterone , androgen , sulfation , dehydroepiandrosterone sulfate , adrenarche , sulfotransferase , biology , biochemistry , hormone

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 inactivating PAPSS2 mutations who presented with low serum DHEA sulfate and androgen excess, clinically manifesting with premature pubarche and early-onset polycystic ovary syndrome.

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