A 22-year-old woman presents with primary amenorrhea. Examination reveals normal secondary sexual characteristics with breast development (Tanner V), absence of pubic and axillary hair, and a blind-ending vagina on examination. Karyotype is 46,XY. The diagnosis is androgen insensitivity syndrome (AIS). Regarding gonadal management, the most important consideration is:
- A Immediate gonadectomy at diagnosis due to very high gonadoblastoma risk (> 50%)
- B Gonadectomy after completion of puberty (typically age 16–18) as gonadal tumour risk is low before puberty and testes contribute to natural feminisation ✓
- C Gonadal tumour risk is negligible; gonads should be preserved indefinitely for psychological benefit
- D Gonadectomy only if AFP or β-hCG tumour markers are elevated
Explanation
In complete androgen insensitivity syndrome (CAIS), the retained testes provide oestrogen (via aromatisation of androgens) that drives feminisation and bone mineral density; gonadal tumour risk (gonadoblastoma, dysgerminoma) is low before puberty (< 3%) but increases to approximately 3–22% lifetime risk. Current consensus recommends deferring gonadectomy until after puberty is complete, allowing natural feminisation to occur, and then performing bilateral gonadectomy followed by oestrogen-only HRT. Immediate gonadectomy would require HRT from puberty and is no longer the recommended approach.
Reference: Shaw's Textbook of Gynaecology, 17th ed.
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Written and medically reviewed by the StethoPrep medical team.