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.; Fernandez-Cancio, M.; Andaluz, P.; Janner, M.; Toran, N.; Moreno, F.; Bereket, ABDULLAH; Akcay, T.; Garcia-Garcia, E.; Munoz, M.; Gracia, R.; Nistal, M.; Castano, L.; Mullis, P.; Carrascosa, A.; Audi, L.; Flueck, C.

doi:10.1210/jc.2011-3169

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

Atıf İçin Kopyala

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-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 97 Sayı: 7
Basım Tarihi: 2012
Doi Numarası: 10.1210/jc.2011-3169
Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Marmara Üniversitesi Adresli: Evet

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).