hrp0092p1-273 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Hypergonadotropic Hypogonadism in 46, XX Adolescents Without Gonadotoxic Therapy: Clinical Features and Molecular Etiologies

Abali Zehra Yavas , Jolly Angad , Guran Tulay , Bayram Yavuz , Abali Saygin , Bas Serpil , Akdemir Zeynep Coban , Posey Jennifer Ellen , Helvacioglu Didem , Kirkgoz Tarik , Eltan Mehmet , Kaygusuz Sare Betul , Lupski James R , Bereket Abdullah , Turan Serap

Background: Hypergonadotropic hypogonadism(HH) in females results from primary gonadal failure related to genetic defects affecting ovarian development and function or acquired gonadal damage; limited knowledge exist regarding underlying genes involved or potential gene X environment interactions responsible for disease trait manifestations. While pathogenic variants in single genes, chromosomal abnormalities such as Turner syndrome and acquired gonadal damage...