Article
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
American journal of human genetics - 2 Jan 2020
Messina Andrea, Pulli Kristiina, Santini Sara, Acierno James, Känsäkoski Johanna, Cassatella Daniele, Xu Cheng, Casoni Filippo, Malone Samuel A, Ternier Gaetan, Conte Daniele, Sidis Yisrael, Tommiska Johanna, Vaaralahti Kirsi, Dwyer Andrew, Gothilf Yoav, Merlo Giorgio R, Santoni Federico, Niederländer Nicolas J, Giacobini Paolo, Raivio Taneli, Pitteloud Nelly
Abstract excerpt
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...
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