Searchable abstracts of presentations at key conferences in endocrinology

ea0081oc12.3 | Oral Communications 12: Reproductive and Developmental Endocrinology | ECE2022

Defective Notch1/Jag1 signaling impacts GnRH development and contributes to hypogonadotropic hypogonadism

Ludovica Cotellessa , Federica Marelli , Duminuco Paolo , Lucia Bartoloni , Michela Adamo , Pitteloud Nelly , Persani Luca , Bonomi Marco , Giacobini Paolo , Valeria Vezzoli

The precise development of the Gonadotropin Releasing Hormone (GnRH) neurons is essential for the proper function of the hypothalamic-pituitary-gonadal axis, as GnRH is the master regulator of reproductive functions in vertebrates. Mutations in genes involved in the development of GnRH neurons are associated with Congenital Hypogonadotropic Hypogonadism (CHH), a heterogeneous genetic disorder characterized by hypogonadism, lack of puberty onset, and infertility, which is named...