Ferraz-de-Souza, B;
Lin, L;
Achermann, JC;
(2011)
Steroidogenic factor-1 (SF-1, NR5A1) and human disease.
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 publication |
| DOI: | 10.1016/j.mce.2010.11.006 |
| Keywords: | Steroidogenic factor-1 (SF-1), NR5A1, Adrenal failure, 46,XY disorders of sex development (DSD), Primary ovarian insufficiency (POI), Infertility, Adrenocortical tumor, Endometriosis, XY SEX REVERSAL, ADRENAL INSUFFICIENCY, CELL-PROLIFERATION, GLY146ALA POLYMORPHISM, ADRENOCORTICAL TUMORS, HETEROZYGOUS MUTATION, GONADAL-DYSGENESIS, NUCLEAR RECEPTOR, BINDING DOMAIN, 46,XY PATIENT |
| UCL classification: | 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 > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health |
| URI: | https://discovery.ucl.ac.uk/id/eprint/467910 |
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