Article
Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother.
Hormone research in paediatrics - 1 Jan 2010
Fukami Maki, Maruyama Tetsuo, Dateki Sumito, Sato Naoko, Yoshimura Yasunori, Ogata Tsutomu
Abstract excerpt
BACKGROUND/AIMS: TAC3 and TACR3 have recently been shown to be causative genes for an autosomal recessive form of isolated hypogonadotropic hypogonadism (IHH). Here, we report a Japanese female with IHH and compound heterozygous TACR3 mutations and her heterozygous parents, and discuss the primary lesion for IHH and clinical findings. CASE REPORT: This female was identified through mutation analysis of TAC3 and...
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