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

Camats, N.; Pandey, A. V.; Fernández-Cancio, M.; Andaluz, P.; Janner, M.; Torán, N.; Moreno, F.; Bereket, A.; Akcay, T.; García-García, E.; Muñoz, M. T.; Gracia, R.; Nistal, M.; Castaño, L.; Mullis, P. E.; Carrascosa, A.; Audí, L.; Flück, C. E. (2012). Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. Journal of clinical endocrinology and metabolism, 97(7), E1294-306. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2011-3169

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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).

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Camats Tarruella, Núria; Pandey, Amit Vikram; Janner, Marco; Mullis, Primus-Eugen and Flück, Christa

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0021-972X

Publisher:

Endocrine Society

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:40

Last Modified:

13 Dec 2014 11:06

Publisher DOI:

10.1210/jc.2011-3169

PubMed ID:

22549935

Web of Science ID:

000306286100030

BORIS DOI:

10.7892/boris.16092

URI:

https://boris.unibe.ch/id/eprint/16092 (FactScience: 223667)

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