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Publication year
2009Source
The New England Journal of Medicine, 360, 22, (2009), pp. 2310-8ISSN
Publication type
Article / Letter to editor

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Organization
Paediatrics - OUD tm 2017
Laboratory of Genetic, Endocrine and Metabolic Diseases
Journal title
The New England Journal of Medicine
Volume
vol. 360
Issue
iss. 22
Page start
p. 2310
Page end
p. 8
Subject
IGMD 6: Hormonal regulation; IGMD 8: Mitochondrial medicine; NCMLS 4: Energy and redox metabolism; ONCOL 3: Translational research; ONCOL 5: Aetiology, screening and detectionAbstract
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 with premature pubarche, hyperandrogenic anovulation, very low DHEAS levels, and increased androgen levels. In vitro coincubation of human SULT2A1 and wild-type or mutant PAPSS2 proteins confirmed the inactivating nature of the mutations. These observations indicate that PAPSS2 deficiency is a monogenic adrenocortical cause of androgen excess.
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- Academic publications [227248]
- Electronic publications [108577]
- Faculty of Medical Sciences [86732]
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