Article
Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study.
Human reproduction (Oxford, England) - 1 Jun 2016
Francou Bruno, Paul Charlotte, Amazit Larbi, Cartes Alejandra, Bouvattier Claire, Albarel Frédérique, Maiter Dominique, Chanson Philippe, Trabado Séverine, Brailly-Tabard Sylvie, Brue Thierry, Guiochon-Mantel Anne, Young Jacques, Bouligand Jérôme
Abstract excerpt
STUDY QUESTION: What is the exact prevalence of Kisspeptin Receptor (KISS1R) mutations in the population of patients with normosmic congenital hypogonadotrophic hypogonadism (nCHH) by comparison with other genes, involved in gonadotrophin-releasing hormone (GnRH) release or action? SUMMARY ANSWER: KISS1R mutants are responsible for the nCHH phenotype in only a small minority of cases and were less prevalent than...
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