Article
Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54.
The Journal of clinical endocrinology and metabolism - 1 Mar 2007
Tenenbaum-Rakover Yardena, Commenges-Ducos Monique, Iovane André, Aumas Chantal, Admoni Osnat, de Roux Nicolas
Abstract excerpt
CONTEXT: Loss of function of the G protein-coupled receptor of kisspeptins (GPR54) was recently described as a new cause of isolated hypogonadotropic hypogonadism. In vivo studies performed in several species have confirmed the major role of kisspeptins in neuroendocrine regulation of the gonadotropic axis and therefore sexual maturation. OBJECTIVE: The objective of this study was to specify the exact...
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