hrp0094p2-412 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

45,X/46,XY mosaicism: Phenotypic characteristics, growth, and gonadal features

Selveindran Nalini M , Wong Jeanne SL , Amin Arliena , Hong Janet YH

Introduction: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. The aim of this study is to provide outcomes, namely growth, comorbidities and gonadal function in patients with 45,X/46,XY mosaicism.Methods: This was a retrospective, longitudinal study conducted from January 2006 to January 2021 at a tertiary pediatric endocrine referral center. Patients' clinical presentation, karyotypes, height, hormonal profiles, imaging and histologic fi...