Jacques Young, Cheng Xu, Georgios E. Papadakis, James S. Acierno, Luigi Maione, Johanna Hietamäki, Taneli Raivio, and Nelly Pitteloud
The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results from the failure of the normal episodic GnRH secretion, leading to delayed puberty and infertility. CHH can be associated with an absent sense of smell, also termed Kallmann syndrome, or with other anomalies. CHH is characterized by rich genetic heterogeneity, with mutations in > 30 genes identified to date acting either alone or in combination.