Ferraz-de-Souza, B; Lin, L; Achermann, JC; (2011) Steroidogenic factor-1 (SF-1, NR5A1) and human disease. [Review]. Molecular and Cellular Endocrinology , 336 (1-2) 198 - 205. 10.1016/j.mce.2010.11.006.

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Abstract

Steroidogenic factor-1 (SF-1, Ad4BP, encoded by NR5A1) is a key regulator of adrenal and reproductive development and function. Based upon the features found in Nr5a1 null mice, initial attempts to identify SF-1 changes in humans focused on those rare individuals with primary adrenal failure, a 46,XY karyotype, complete gonadal dysgenesis and Mullerian structures. Although alterations affecting DNA-binding of SF-1 were found in two such cases, disruption of SF-1 is not commonly found in patients with adrenal failure. In contrast, it is emerging that variations in SF-1 can be found in association with a range of human reproductive phenotypes such as 46,XY disorders of sex development (DSD), hypospadias, anorchia, male factor infertility, or primary ovarian insufficiency in women. Overexpression or overactivity of SF-1 is also reported in some adrenal tumors or endometriosis. Therefore, the clinical spectrum of phenotypes associated with variations in SF-1 is expanding and the importance of this nuclear receptor in human endocrine disease is now firmly established. (C) 2010 Elsevier Ireland Ltd. All rights reserved.

Type:	Article
Title:	Steroidogenic factor-1 (SF-1, NR5A1) and human disease
Location:	San Diego, CA
Open access status:	An open access version is available from UCL Discovery
DOI:	10.1016/j.mce.2010.11.006
Publisher version:	http://doi.org/10.1016/j.mce.2010.11.006
Language:	English
Additional information:	Copyright © 2010 Elsevier Ireland Ltd. Open access under CC BY license.
Keywords:	Steroidogenic factor-1 (SF-1), NR5A1, Adrenal failure, 46,XY disorders of sex development (DSD), Primary ovarian insufficiency (POI), Infertility, Adrenocortical tumor, Endometriosis
UCL classification:	UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI:	https://discovery.ucl.ac.uk/id/eprint/1500948

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• Steroidogenic factor-1 (SF-1, NR5A1) and human disease. (deposited 19 Dec 2010 23:29)
  • Steroidogenic factor-1 (SF-1, NR5A1) and human disease. (deposited 17 May 2017 13:56) [Currently Displayed]

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