hrp0092p1-142 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Disorders of Sex Development (DSD): Inconsistencies Between Clinical Features and Peripheral Blood Cultured Karyotypes

Gurtunca Nursen , Yatsenko Svetlana , Schneck Francis , Witchel Selma Feldman

Sex differentiation and development are complex processes reflecting the precise spatiotemporal expression of specific genes and interactions among gene products. In some instances, peripheral blood karyotype diverges from anticipated findings based on phenotypic features. Ascertaining for chromosomal mosaicism aids the shared decision-making discussions with families and other health care providers. We have investigated for sex chromosome mosaicism in 13 patients by using flu...