Testicular Feminization

Testicular feminization (complete androgen-insensitivity syndrome, CAIS) is an X-linked androgen-receptor (AR) gene mutation causing 46,XY individuals to have a completely female external phenotype despite testes (intra-abdominal/inguinal) and testosterone production. Features: blind-ending vagina, no uterus/fallopian tubes, normal breast development at puberty (aromatization of testosterone), scant pubic/axillary hair. They are raised female; gonadectomy after puberty to prevent germ-cell malignancy; estrogen replacement.

Common Symptoms

Female external phenotype; primary amenorrhea; inguinal testes; blind vagina; no uterus; normal breast development; scant pubic hair

Causes and Pathogenesis

Androgen-receptor gene mutation makes tissues unresponsive to testosterone; Wolffian structures regress, Müllerian-inhibiting factor prevents uterus; external genitalia feminize.

Treatment

Female gender identity; gonadectomy after puberty (cancer prevention); estrogen replacement; vaginal dilation/surgery as needed; genetic counseling

Preventive Measures

Genetic counseling; family screening; careful gender assignment; malignancy surveillance.

Department to Visit

It is recommended to visit the Endocrinology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.