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Article

Inactivating PAPSS2 mutations in a patient with premature pubarche.

The New England journal of medicine - 28 May 2009

Noordam Cees, Dhir Vivek, McNelis Joanne C, Schlereth Florian, Hanley Neil A, Krone Nils, Smeitink Jan A, Smeets Roel, Sweep Fred C G J, Claahsen-van der Grinten Hedi L, Arlt Wiebke

Abstract excerpt

Dehydroepiandrosterone (DHEA) sulfotransferase, known as SULT2A1, converts the androgen precursor DHEA to its inactive sulfate ester, DHEAS [corrected], thereby preventing the conversion of DHEA to an active androgen. SULT2A1 requires 3'-phosphoadenosine-5'-phosphosulfate (PAPS) for catalytic activity. We have identified compound heterozygous mutations in the gene encoding human PAPS synthase 2 (PAPSS2) in a girl...

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Source

Identifiers

PMID: 19474428
DOI: 10.1056/NEJMoa0810489

Genes

PAPSS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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