Inactivating PAPSS2 mutations in a patient with premature pubarche.
N Engl J Med
; 360(22): 2310-8, 2009 May 28.
Article
en En
| MEDLINE
| ID: mdl-19474428
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Pubertad Precoz
/
Sulfato Adenililtransferasa
/
Complejos Multienzimáticos
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
N Engl J Med
Año:
2009
Tipo del documento:
Article
País de afiliación:
Países Bajos