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• W2035757406 abstract "Steroidogenic factor-1 (SF-1) (Ad4BP, <i>NR5A1</i>) is a nuclear receptor that plays a key role in adrenal and reproductive development and function. Deletion of the gene encoding Sf-1 (<i>Nr5a1</i>) in mice results in severe developmental defects of the adrenal gland and gonad. Consequently, initial work on the potential effects of SF-1 disruption in humans focused on individuals with primary adrenal failure, a 46,XY karyotype, complete gonadal dysgenesis, and Müllerian structures. This is a rare phenotype, but has been reported on two occasions, because of alterations that affect key DNA-binding domains of SF-1. Attention then turned to a potential wider role of SF-1 in human adrenal and reproductive disorders. Although changes in SF-1 only very rarely cause isolated adrenal failure, it is emerging that variations in SF-1 are a surprisingly frequent cause of reproductive dysfunction in humans. In 46,XY disorders of sex development, a spectrum of phenotypes has been reported including severe and partial forms of gonadal (testicular) dysgenesis, hypospadias, anorchia with microphallus, and even male factor infertility. In 46,XX females, alterations in SF-1 are associated with primary ovarian insufficiency. Thus, SF-1 seems be a more significant factor in human reproductive health than was first envisioned, with implications for adults as well as children." @default.
• W2035757406 created "2016-06-24" @default.
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• W2035757406 date "2012-10-08" @default.
• W2035757406 modified "2023-10-02" @default.
• W2035757406 title "Steroidogenic Factor-1 and Human Disease" @default.
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• W2035757406 doi "https://doi.org/10.1055/s-0032-1324720" @default.
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