Article
Molecular genetic analysis of normosmic hypogonadotropic hypogonadism in a Turkish population: identification and detailed functional characterization of a novel mutation in the gonadotropin-releasing hormone receptor gene.
Neuroendocrinology - 1 Jan 2006
Topaloglu A Kemal, Lu Zhi-Liang, Farooqi I Sadaf, Mungan Neslihan O, Yuksel Bilgin, O'Rahilly Stephen, Millar Robert P
Abstract excerpt
BACKGROUND/AIMS: Currently known mutations account for less than 15% of cases with normosmic hypogonadotropic hypogonadism (nIHH). The objective of the study was to identify novel hereditary associations in the pathogenesis of nIHH. METHODS: We investigated 26 Turkish patients with nIHH (21 males and 5 females) from 22 families. The coding regions of the GnRH receptor, GnRH1, GPR54, and KISS1 genes were directly...
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