Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors.

ABSTRACT:

Background

Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disorder caused by mutations in the androgen receptor (AR) gene, leading to androgen resistance and disorders of sex development (DSD) in 46, XY individuals. It is classified into three phenotypes: complete (CAIS), partial (PAIS), and mild (MAIS). CAIS is characterized by normal external female genitalia, primary amenorrhea, and a 46, XY karyotype. While the risk of germ cell tumors (GCTs) in CAIS is generally low due to rapid germ cell depletion from absent AR responsiveness, GCTs still occur in adulthood, and clinical data on such cases remain limited-especially regarding detailed genetic profiling and long-term management outcomes.

Case

This study presents two adult CAIS patients with GCTs,

SUBMITTER: Wang F 

PROVIDER: S-EPMC12927923 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature