title: Steroidogenic factor-1 (SF-1, NR5A1) and human disease.
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 Müllerian 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.
authors.affiliation: Developmental Endocrinology Research Group, Clinical & Molecular Genetics Unit, UCL Institute of Child Health, University College London, London WC1N 1EH, United Kingdom.
authors.forename: Bruno
authors.initials: B
authors.lastname: Ferraz-de-Souza
authors.forename: Lin
authors.initials: L
authors.lastname: Lin
authors.forename: John C
authors.initials: JC
authors.lastname: Achermann
mesh_terms: D000818:Animals; D004194:Disease / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D054339:Steroidogenic Factor 1 / Q000235:genetics*
chemical_list: D054339:Steroidogenic Factor 1