ea0032p637 | Male reproduction | ECE2013
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...