Article
Mutation analysis of the KAL gene in female patients with gonadotropin-releasing hormone deficiency.
Yonsei medical journal - 29 Feb 2004
Lee Sook-Hwan, Han Jung-Hee, Cho Sung-Won, Lee Whee-Hyun, Cha Kwang-Yul, Lee Mee-Hwa
Abstract excerpt
Isolated gonadotropin-releasing hormone (GnRH) deficiency, including Kallmann's syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH), is a congenital disorder, which is characterized by a functional deficit in hypothalamic GnRH secretion. Despite recent advances in the understanding of the pathogenesis of the X-linked form of KS as the identification of the KAL gene (Xp22.3), the genetic basis of the...
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