Searchable abstracts of presentations at key conferences in endocrinology

ea0063gp253 | Disturbances of Reproduction | ECE2019

Genetic architecture of greek patients with isolated GnRH deficiency

Stamou Maria , Varnavas Petros , Plummer Lacey , Koika Vassiliki , Georgopoulos Neoklis

Introduction: Isolated Gonadotropin Releasing Hormone (GnRH) Deficiency (IGD) is a rare disease with a wide spectrum of reproductive and non- reproductive clinical characteristics and is mainly characterized by hypogonadotropic hypogonadism with anosmia (Kallmann Syndrome) or normal olfactory function (Normosmic Idiopathic Hypogonadotropic Hypogonadism- nIHH). Apart from the phenotypic heterogeneity IGD is also highly genetically heterogeneous with >35 genes impli...