Ten Novel Mutations in the NR5A1 Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals


Camats N., Pandey A. V. , Fernandez-Cancio M., Andaluz P., Janner M., Toran N., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.97, sa.7, 2012 (SCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 97 Konu: 7
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1210/jc.2011-3169
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Özet

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).