Article
A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.
Hormone research in paediatrics - 1 Jan 2014
Takagi Masaki, Narumi Satoshi, Asakura Yumi, Muroya Koji, Hasegawa Yukihiro, Adachi Masanori, Hasegawa Tomonobu
Abstract excerpt
BACKGROUND: Heterozygous SOX2 mutations have been reported to cause isolated hypogonadotropic hypogonadism (HH) in addition to ocular and brain abnormalities. OBJECTIVE: We report a novel missense SOX2 (Y110C) mutation in an HH patient with mild ocular malformation. PATIENTS: The 20-year-old male was referred because of typical signs of complete hypogonadism, with small intrascrotal testes (2 ml), no pubic hair...
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