[HTML][HTML] DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease
JP Suntharalingham, F Buonocore, AJ Duncan… - Best practice & research …, 2015 - Elsevier
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 …
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 …