Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals

BORIS DOI
Publisher DOI
PubMed ID
22549935
Description
Steroidogenic factor-1 (SF-1/NR5A1) is a nuclear receptor that regulates adrenal and reproductive development and function. NR5A1 mutations have been detected in 46,XY individuals with disorders of sexual development (DSD) but apparently normal adrenal function and in 46,XX women with normal sexual development yet primary ovarian insufficiency (POI).
Date of Publication
2012-05-01
Publication Type
Article
Subject(s)
Language(s)
en
Contributor(s)
Fernández-Cancio, M.
Andaluz, P.
Torán, N.
Moreno, F.
Bereket, A.
Akcay, T.
García-García, E.
Muñoz, M. T.
Gracia, R.
Nistal, M.
Castaño, L.
Carrascosa, A.
Audí, L.
Additional Credits
Series
Journal of clinical endocrinology and metabolism
Publisher
Endocrine Society
ISSN
0021-972X
Access(Rights)
open.access
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