Article
GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature.
Frontiers in endocrinology - 1 Jan 2020
Neocleous Vassos, Fanis Pavlos, Toumba Meropi, Tanteles George A, Schiza Melpo, Cinarli Feride, Nicolaides Nicolas C, Oulas Anastasis, Spyrou George M, Mantzoros Christos S, Vlachakis Dimitrios, Skordis Nicos, Phylactou Leonidas A
Abstract excerpt
Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease caused by Gonadotropin-Releasing Hormone (GnRH) deficiency. So far a limited number of variants in several genes have been associated with the pathogenesis of the disease. In this original research and review manuscript the retrospective analysis of known variants in ANOS1 (KAL1), RNF216, WDR11, FGFR1, CHD7, and POLR3A genes is...
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