Article
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.
Human mutation - 1 Jan 2017
Igarashi Maki, Takasawa Kei, Hakoda Akiko, Kanno Junko, Takada Shuji, Miyado Mami, Baba Takashi, Morohashi Ken-Ichirou, Tajima Toshihiro, Hata Kenichiro, Nakabayashi Kazuhiko, Matsubara Yoichi, Sekido Ryohei, Ogata Tsutomu, Kashimada Kenichi, Fukami Maki
Abstract excerpt
The role of monogenic mutations in the development of 46,XX testicular/ovotesticular disorders of sex development (DSD) remains speculative. Although mutations in NR5A1 are known to cause 46,XY gonadal dysgenesis and 46,XX ovarian insufficiency, such mutations have not been implicated in testicular development of 46,XX gonads. Here, we identified identical NR5A1 mutations in two unrelated Japanese patients with...
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