Endocrine Abstracts

Introduction: The KISS1 gene codes for the G protein-coupled receptor 54 (KISS1R) and plays a crucial role in the regulation of reproduction and pubertal maturation. Mutations in the KISS1-R gene are extremely rare and usually implicated in isolated hypogonadotropic hypogonadism. Here, we report three cases of a familial mutation in the KISS1 gene responsible for combined hypopituitarism.Observations: Three related patients (including two twins) from a f...