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ea0032p637 | Male reproduction | ECE2013

KISS1R mutations in normosmic congenital hypogonadotropic hypogonadism: clinical evaluation of two families and molecular characterization of a novel mutation

Brioude Frederic , Bouligand Jerome , Francou Bruno , Fagart Jerome , Roussel Ronan , Viengchareun Say , Combettes Laurent , Brailly-Tabard Sylvie , Lombes Marc , Young Jacques , Guiochon-Mantel Anne

Context: KISS1R mutations have been implicated in patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110).Objective: To describe in detail nCHH patients with biallelic KISS1R mutations belonging to two unrelated families, and to functionally characterize a novel KISS1R mutation.Results: The p.Tyr313His original mutant was found in the homozygous state in three affected kindr...

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KISS1R mutations in normosmic congenital hypogonadotropic hypogonadism: clinical evaluation of two families and molecular characterization of a novel mutation

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