DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

@inproceedings{Suntharalingham2015DAX1A,
  title={DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease},
  author={Jenifer P Suntharalingham and Federica Buonocore and Andrew J. Duncan and John C Achermann},
  booktitle={Best practice & research. Clinical endocrinology & metabolism},
  year={2015}
}
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… CONTINUE READING
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