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

  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},
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
Recent Discussions
This paper has been referenced on Twitter 2 times over the past 90 days. VIEW TWEETS
26 Citations
8 References
Similar Papers


Publications citing this paper.
Showing 1-10 of 26 extracted citations


Publications referenced by this paper.
Showing 1-8 of 8 references

NR 5 A 1 ( SF1 ) mutations are not a major cause of primary ovarian insufficiency

  • A Voican, A Bachelot, J Bouligand
  • J Clin Endocrinol Metab
  • 2013

Limited contribution of NR 5 A 1 ( SF1 ) mutations in women with primary ovarian insufficiency ( POI )

  • F Janse, LM deWith, KJ Duran
  • Fertil Steril
  • 2012

Ovotestes and XY sex reversal in a female with an interstitial 9 q 33 . 3q 34 . 1 deletion encompassing NR 5 A 1 and LMX 1 B causing features of Genitopatellar syndrome

  • S Schlaubitz, SA Yatsenko, LD Smith
  • Am J Med Genet A
  • 2007

Similar Papers

Loading similar papers…