Article
Fertility preservation in a family with a novel NR5A1 mutation.
Endocrine journal - 1 Jan 2015
Yagi Hiroko, Takagi Masaki, Kon Masafumi, Igarashi Maki, Fukami Maki, Hasegawa Yukihiro
Abstract excerpt
The common phenotype of nuclear receptor superfamily 5, group A, member 1 (NR5A1) gene mutations in 46,XY is gonadal dysgenesis without adrenal deficiency. Though the phenotype of gonadal dysgenesis is variable, ranging from complete female to normal male genitalia, an asymptomatic 46,XY male is rare. Preserved fertility has so far been described in only three affected 46,XY males with different mutations, but no...
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