Clinical characteristics, AR gene variants, and functional domains in 64 patients with androgen insensitivity syndrome.

ABSTRACT:

Background

Androgen insensitivity syndrome (AIS) is caused by abnormal androgen receptor (AR) genes that show variable genotypes and phenotypes. However, the correlation between genotype and phenotype is unclear.

Methods

We retrospectively evaluated 64 patients with AIS at Shanghai Children's Hospital from 2015 to 2022. We analysed the clinical data of the patients, including hormone levels, AR gene variants, and functional domains.

Results

Variants occurred in the 3 major functional domains in 56 patients, including 23 patients with complete androgen insensitivity syndrome (CAIS) and 33 with partial androgen insensitivity syndrome (PAIS). The incidence of nonscrotal fusion (P = 0.019) and proximal urethral opening (P = 0.0002) in the ligand-binding domain (LBD) group

SUBMITTER: Liu Q 

PROVIDER: S-EPMC9829593 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature