hrp0095t14 | Section | ESPE2022

CCDC149: a Novel Gene Associated with Multiple Pituitary Hormone Deficiency

Rath Shoshana , Elias-Assad Ghadir , Abozaid Said , Nasser Samra Nadra , Mandel Hannah

Background: Idiopathic hypogonadotropic hypogonadism (HH) is highly genetically heterogeneous. To date, about 50 causative genes have been identified, estimated to account for up to 50% of hereditary cases. With next generation sequencing (NGS) technology now in wide clinical use, it is increasingly possible to determine the underlying genetic etiology of isolated and combined pituitary hormone deficiencies.Objective: We...