Multifunctional role of steroidogenic factor 1 and disorders of sex development
نویسندگان
چکیده
منابع مشابه
Multifunctional role of steroidogenic factor 1 and disorders of sex development.
Disorders of sex development (DSD) involve several conditions that result from abnormalities during gonadal determination and differentiation. Some of these disorders may manifest at birth by ambiguous genitalia; others are diagnosed only at puberty, by the delayed onset of secondary sexual characteristics. Sex determination and differentiation in humans are processes that involve the interacti...
متن کاملSteroidogenic Factor-1 (SF-1, NR5A1) and 46,XX Ovotesticular Disorders of Sex Development: One Factor, Many Phenotypes
Gerard Conway, a colleague at the adult DSD clinic at UCLH, recently said: “If the phenotype doesn’t make sense, think of SF-1.” This may not always be true, but steroidogenic factor-1 (SF-1/NR5A1)-related phenotypes have expanded greatly in recent years, and the report of Swartz et al. [1] in this issue of Hormone Research in Paediatrics adds to the emerging picture. SF-1 (officially known as ...
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Steroidogenic factor-1 (SF-1) (Ad4BP, NR5A1) is a nuclear receptor that regulates many aspects of adrenal and reproductive development and function. Consequently, deletion of the gene (Nr5a1) encoding Sf-1 in XY mice results in impaired adrenal development, complete testicular dysgenesis with Mullerian structures, and female external genitalia. Initial efforts to identify NR5A1 changes in human...
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ژورنال
عنوان ژورنال: Arquivos Brasileiros de Endocrinologia & Metabologia
سال: 2011
ISSN: 0004-2730
DOI: 10.1590/s0004-27302011000800015