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