Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report.

ABSTRACT:

Background

Androgen insensitivity syndrome is an X-linked recessive genetic disease caused by mutations in the androgen receptor gene (AR). However, the underlying molecular mechanisms for the majority of AR variants remain unclear. In this study, we identified a point variant in three patients with complete androgen insensitivity syndrome (CAIS), summarized the correlation analysis, and performed a literature review.

Case summary

The proband was raised as a girl. In infancy, she was first referred to hospital with a right inguinal hernia. Ultrasonography revealed the absence of a uterus and ovaries, and a testis-like structure located at the inguinal canal. Further diagnostic workup detected a 46, XY karyotype, and fluorescence in situ hybridization analysis showed the pres

SUBMITTER: Wang KN 

PROVIDER: S-EPMC8678886 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature