PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation-in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 4, 2015, Pages E672-E680

  Oostdijk, Wilma ^a   Idkowiak, Jan ^b   Mueller, Jonathan W ^b   House, Philip J ^b   Taylor, Angela E ^b   O'Reilly, Michael W ^b   Hughes, Beverly A ^b   De Vries, Martine C ^a   Kant, Sarina G ^a   Santen, Gijs W E ^a   Verkerk, Annemieke J M H ^c   Uitterlinden, André G ^c   Wit, Jan M ^a   Losekoot, Monique ^a   Arlt, Wiebke ^b  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

3' PHOSPHOADENOSINE 5' PHOSPHOSULFATE SYNTHASE 2; ANDROGEN; CLOMIFENE; PRASTERONE; PRASTERONE SULFATE; STEROID 5ALPHA REDUCTASE; SYNTHETASE; UNCLASSIFIED DRUG; MULTIENZYME COMPLEX; PAPS SYNTHETASE; SULFATE; SULFATE ADENYLYLTRANSFERASE;

ADOLESCENT; ADULT; ANDROGEN BLOOD LEVEL; ANDROGEN METABOLISM; ANOVULATION; ARTICLE; BONE DYSPLASIA; CHILD; CLINICAL ARTICLE; COMPUTER MODEL; EMBRYO; ENZYME ACTIVITY; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERANDROGENISM; IN VITRO STUDY; IN VIVO STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OLIGOMENORRHEA; OVULATION INDUCTION; PAPSS2 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; SPONDYLOEPIMETAPHYSEAL DYSPLASIA; SULFATION; YOUNG ADULT; GENETICS; METABOLISM; MIDDLE AGED; MUTATION;

ADOLESCENT; ADULT; ANDROGENS; DEHYDROEPIANDROSTERONE; DEHYDROEPIANDROSTERONE SULFATE; FAMILY; FEMALE; HUMANS; HYPERANDROGENISM; MALE; MIDDLE AGED; MULTIENZYME COMPLEXES; MUTATION; SULFATE ADENYLYLTRANSFERASE; SULFATES; YOUNG ADULT;

EID: 84927602585     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-3556     Document Type: Article

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