Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.

@article{Camats2012TenNM,
  title={Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.},
  author={N. Camats and A. Pandey and M. Fern{\'a}ndez-Cancio and P. Andaluz and M. Janner and N. Tor{\'a}n and F. Moreno and A. Bereket and T. Akçay and E. Garc{\'i}a-Garc{\'i}a and M. T. Mu{\~n}oz and R. Grac{\'i}a and M. Nistal and L. Casta{\~n}o and P. Mullis and A. Carrascosa and L. Aud{\'i} and C. Fl{\"u}ck},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2012},
  volume={97 7},
  pages={
          E1294-306
        }
}
CONTEXT Steroidogenic factor-1 (SF-1/NR5A1) is a nuclear receptor that regulates adrenal and reproductive development and function. NR5A1 mutations have been detected in 46,XY individuals with disorders of sexual development (DSD) but apparently normal adrenal function and in 46,XX women with normal sexual development yet primary ovarian insufficiency (POI). OBJECTIVE A group of 100 46,XY DSD and two POI was studied for NR5A1 mutations and their impact. DESIGN Clinical, biochemical… Expand
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