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• W1796122241 abstract "DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a key role in human adrenal and reproductive development. Loss of DAX-1 function is classically associated with X-linked adrenal hypoplasia congenita. This condition typically affects boys and presents as primary adrenal insufficiency in early infancy or childhood, hypogonadotropic hypogonadism at puberty and impaired spermatogenesis. Late onset forms of this condition and variant phenotypes are increasingly recognized. In contrast, disruption of SF-1 only rarely causes adrenal insufficiency, usually in combination with testicular dysgenesis. Variants in SF-1/NR5A1 more commonly cause a spectrum of reproductive phenotypes ranging from 46,XY DSD (partial testicular dysgenesis or reduced androgen production) and hypospadias to male factor infertility or primary ovarian insufficiency. Making a specific diagnosis of DAX-1 or SF-1 associated conditions is important for long-term monitoring of endocrine and reproductive function, appropriate genetic counselling for family members, and for providing appropriate informed support for young people." @default.
• W1796122241 created "2016-06-24" @default.
• W1796122241 creator A5005285642 @default.
• W1796122241 creator A5008645373 @default.
• W1796122241 creator A5013727457 @default.
• W1796122241 creator A5035173462 @default.
• W1796122241 date "2015-08-01" @default.
• W1796122241 modified "2023-09-26" @default.
• W1796122241 title "DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease" @default.
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• W1796122241 doi "https://doi.org/10.1016/j.beem.2015.07.004" @default.
• W1796122241 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5159745" @default.
• W1796122241 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26303087" @default.
• W1796122241 hasPublicationYear "2015" @default.
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