Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism

Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder characterized by infertility and the absence of puberty. Defects in GnRH neuron migration or altered GnRH secretion and/or action lead to a severe gonadotropin-releasing hormone (GnRH) deficiency. Given the close developmental association of GnRH neurons with the olfactory primary axons, CHH is often associated with anosmia or hyposmia, in which case it is defined as Kallmann syndrome (KS). The genetics of CHH are heterogeneous, and>40 genes are involved either alone or in combination.

Source: The American Journal of Human Genetics - December 25, 2019 Category: Genetics & Stem Cells Authors: Andrea Messina, Kristiina Pulli, Sara Santini, James Acierno, Johanna K änsäkoski, Daniele Cassatella, Cheng Xu, Filippo Casoni, Samuel A. Malone, Gaetan Ternier, Daniele Conte, Yisrael Sidis, Johanna Tommiska, Kirsi Vaaralahti, Andrew Dwyer, Yoav Gothi Tags: Article Source Type: research