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Article

Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2

1 Feb 2007

Abstract excerpt

OBJECTIVE: Heterozygous SOX2 mutations have recently been reported to cause isolated hypogonadotropic hypogonadism (HH), in addition to ocular and brain abnormalities. Here, we report a further case with a heterozygous hypomorphic SOX2 mutation and isolated HH. PATIENT: The patient was a 28-year-old Japanese female with congenital right anophthalmia and poor pubertal development, who was found to have HH by a...

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PMID: 17287405
DOI: 10.1530/eje-06-0606

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