Clinical and hormonal characteristics and growth data of 45,X/46,XY mosaicism in 38 Chinese patients.

Backgrounds: 45,X/46,XY mosaicism is the most common type of sex chromosomal abnormality in disorders of sex development (DSD). We investigated the clinical manifestations, serum sex hormone levels and growth data of 38 45,X/46,XY mosaicism patients, which provides better insight into this disease.

Methods: We prospectively evaluated 38 patients who were diagnosed with 45,X/46,XY mosaicism at the Department of Endocrinology of Shanghai Children's Hospital from 2010 to 2020.