hrp0092p3-235 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Leydig Cell Hypoplasia in Three Siblings in the Same Family

Doneray Hakan , Ozden Ayse , Yakar Omer

Background: Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentiation (DSD). Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene can produce LCH. In this poster, we present three siblings with LCH based on the clinical and laboratory findings and the molecular diagnosis.Cases: A seven-year-old child was brought to our hospita...