ea0070aep788 | Reproductive and Developmental Endocrinology | ECE2020
Xu Cheng
, Messina Andrea
, Acierno James
, Niederlander Nicolas
, Santoni Federico
, Papadakis Georgios
, Pignatelli Duarte
, Avbelj Stefanija Magdalena
, Keefe Kimberly
, Balasubramanian Ravikumar
, Crowley William
, Pitteloud Nelly
Background: Congenital hypogonadotropic hypogonadism (CHH), a clinically and genetic heterogenous sydrome, is caused by > 40 known loci whose mutations share the ability to cause defects in the ontogeny of the GnRH neuron network leading to absent/incomplete puberty and infertility. Cornelia de Lange Syndrome (CdLS) is similarly heterogenous disorder (distinctive facies, psychomotor delay, growth retardation and upper limb malformation) caused by mutations in 7 different g...