Article
[Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes].
Problemy endokrinologii - 1 May 2021
Makretskaya N A, Gerasimova M V, Vasilyev E V, Zubkova N A, Kalinchenko N Y, Kolodkina A A, Petrov V M, Pogoda T V, Panova A V, Frolova E B, Poliakov A V, Tiulpakov A N
Abstract excerpt
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterised by lack of pubertal development and infertility, due to deficient production, secretion or action of gonadotropin-releasing hormone (GnRH). Clinically, there are variants of CHH with hypo-/anosmia (Kalman syndrome) and normosmic hypogonadotropic hypogonadism. Given a growing list of gene mutations accounting for CHH, the application...
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