The clinical diversity and molecular etiology in 46, XY disorders of sex development patients without uterus.

ABSTRACT:

Background

Disorders of sexual development (DSDs) are a group of rare conditions with a discordance of chromosomal, gonadal, or phenotypic features of the internal and/or external genitalia, which accounts for 0.5% of the population. The precise diagnosis of 46, XY DSDs without uterus is often obscure because of the similar clinical manifestations. Reverse phenotyping based on specific genetic variants helps to identify the cause of these diseases and reduces misdiagnosis caused by limitations in serum tests and imaging.

Methods

Patients with 46, XY DSDs without uterus were enrolled from the Department of Obstetrics and Gynecology, Reproductive Endocrinology and Infertility Center of the Peking Union Medical College Hospital between 2022 and 2023. Comprehensive clinical data

SUBMITTER: Ding L 

PROVIDER: S-EPMC12007265 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature