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OBG · Gynaecological endocrinology
Sample itemA phenotypic woman has primary amenorrhoea, well-developed breasts, scanty axillary and pubic hair, a blind vagina and inguinal masses. Karyotype is 46,XY with normal-to-high testosterone. Which management is appropriate?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Gonadectomy after puberty, then oestrogen replacement
Complete androgen insensitivity is caused by an X-linked androgen receptor mutation, so testosterone cannot act, and peripheral aromatisation to oestrogen gives breast development. Testes are retained until after puberty to allow spontaneous feminisation, then removed because of malignancy risk, followed by oestrogen replacement.
Option by option
A. Gonadectomy after puberty, then oestrogen replacement (correct)
Correct. Delayed gonadectomy allows natural puberty and then removes the malignancy risk.
B. Cyclical progesterone to induce withdrawal bleeds
There is no uterus, so withdrawal bleeding cannot occur.
C. Testosterone supplementation to induce male puberty
Testosterone is ineffective because the receptor is non-functional.
D. Immediate gonadectomy before puberty in all cases
Early removal is not required and would cause loss of spontaneous puberty.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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