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

ABSTRACT:

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. We analyzed clinical data from the patients, including hormone levels, height, weight, body mass index (BMI) and gonadal pathology results.

Results

Among the 38 cases of 45,X/46,XY mosaicism, 18 cases showed a female external genitalia phenotype (the female group) with an external masculinization sco

SUBMITTER: Yang J 

PROVIDER: S-EPMC10154695 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature