Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism

Congenital hypogonadotropic hypogonadism (CHH) is a condition characterized by absent puberty and infertility due to gonadotropin releasing hormone (GnRH) deficiency, which is often associated with anosmia (Kallmann syndrome, KS). We identified loss-of-function heterozygous mutations in anti-Mülleri...

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Bibliographic Details
Main Authors: Samuel Andrew Malone, Georgios E Papadakis, Andrea Messina, Nour El Houda Mimouni, Sara Trova, Monica Imbernon, Cecile Allet, Irene Cimino, James Acierno, Daniele Cassatella, Cheng Xu, Richard Quinton, Gabor Szinnai, Pascal Pigny, Lur Alonso-Cotchico, Laura Masgrau, Jean-Didier Maréchal, Vincent Prevot, Nelly Pitteloud, Paolo Giacobini
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2019-07-01
Series:eLife
Subjects:
AMH
Online Access:https://elifesciences.org/articles/47198