title: Steroidogenic factor-1 (SF-1) and its relevance to pediatric endocrinology.
abstract: Steroidogenic factor-1 (SF-1) (NR5A1) is a member of the nuclear receptor superfamily that is expressed widely throughout the adrenal and reproductive axes during development and plays a central role in the function of these endocrine systems in post-natal and adult life. Much has been learned about the role of this transcription factor since its initial cloning in 1992, largely due to the creation of an Sf-1 (FtzF1) knockout mouse model, in vitro studies of nuclear receptor function and, more recently, following identification and characterization of patients with naturally-occurring SF-1 mutations. In this review, we will summarize how our knowledge of SF-1 in endocrine development and disease evolved to its current state, focusing on the spectrum of phenotypes associated with mutations in this transcription factor in patients who might present to a pediatric endocrinologist.
authors.affiliation: UCL Institute of Child Health & Department of Medicine, University College London, UK.
authors.forename: Bruno Ferraz
authors.initials: BF
authors.lastname: 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; D002648:Child; D004700:Endocrine System Diseases / Q000235:genetics / Q000503:physiopathology*; D004704:Endocrinology; D006059:Gonadal Dysgenesis / Q000235:genetics / Q000503:physiopathology; D018398:Homeodomain Proteins / Q000235:genetics / Q000502:physiology*; D006801:Humans; D010372:Pediatrics; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics / Q000502:physiology*; D054339:Steroidogenic Factor 1; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology*
chemical_list: D018398:Homeodomain Proteins; C515057:NR5A1 protein, human; D018160:Receptors, Cytoplasmic and Nuclear; D054339:Steroidogenic Factor 1; D014157:Transcription Factors; C515058:steroidogenic factor 1, mouse