A 17-year-old girl with primary amenorrhoea, normal breast development, absent pubic and axillary hair, vaginal length 2 cm with no cervix or uterus on MRI, and a 46,XY karyotype is diagnosed with Complete Androgen Insensitivity Syndrome (CAIS). What is the recommended timing for gonadectomy in CAIS?

• A Immediate gonadectomy at diagnosis regardless of age due to high malignancy risk
• B Gonadectomy is not recommended in CAIS as malignancy risk is negligible throughout life
• C Gonadectomy at puberty onset to prevent virilisation from testicular androgens
• D Defer gonadectomy until after completion of puberty (typically age 18–25), then perform — malignancy risk before puberty is <3% ✓

Explanation

In complete androgen insensitivity syndrome, the gonads (intra-abdominal testes) produce testosterone that is converted to oestradiol peripherally, driving normal feminisation and breast development. The malignancy risk (gonadoblastoma/dysgerminoma) is estimated at less than 3% before puberty and rises to 15–30% over a lifetime. Current consensus (ISNA, AIS-DSD Support Group, DSD guidelines) recommends deferring prophylactic gonadectomy until after puberty is complete (typically after age 18) to allow endogenous oestrogen to drive full feminisation, followed by gonadectomy and exogenous oestrogen replacement — rather than immediate gonadectomy that would require oestrogen therapy from childhood.

Reference: Shaw's Textbook of Gynaecology, 17th ed.

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