Question 1 · Hard
A 17-year-old girl is brought to the gynaecology OPD because she has never menstruated. She is 165 cm tall with normal female external genitalia but poor breast development. FSH is 95 IU/L and LH is raised. Ultrasound shows a small uterus but no recognisable ovaries; the karyotype is 46,XY. Laparoscopy shows bilateral streak gonads. What is the most important step to protect her from cancer?
- AYearly pelvic ultrasound
- BOestrogen replacement alone
- CBilateral gonadectomy
- DSix-monthly serum AFP
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Answer: C · Bilateral gonadectomy
This is 46,XY complete gonadal dysgenesis (Swyer syndrome): the gonads never become testes, so no AMH or testosterone is made, and a uterus and female genitalia develop. Dysgenetic gonads that contain Y-chromosome material carry a high risk of gonadoblastoma, which can progress to dysgerminoma or other germ cell tumours, so the streak gonads are removed once the diagnosis is made. Hormone replacement then induces puberty, and pregnancy is possible with a donor oocyte because the uterus is present. The diagnosis should be explained with privacy and sensitivity.
- A: Ultrasound surveillance cannot reliably detect early tumours in streak gonads.
- B: Oestrogen induces puberty but does nothing to remove the tumour risk.
- D: Gonadoblastoma and dysgerminoma do not reliably raise AFP, so it cannot be used for screening.