@article{discovery467910, month = {April}, pages = {198 -- 205}, journal = {MOLECULAR AND CELLULAR ENDOCRINOLOGY}, publisher = {ELSEVIER IRELAND LTD}, volume = {336}, year = {2011}, title = {Steroidogenic factor-1 (SF-1, NR5A1) and human disease}, number = {1-2}, issn = {0303-7207}, 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}, author = {Ferraz-de-Souza, B and Lin, L and Achermann, JC}, url = {https://discovery.ucl.ac.uk/id/eprint/467910/}, 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.} }