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Physiology · Reproduction: androgen insensitivity
Sample itemA phenotypically female 17-year-old has primary amenorrhoea, normal breast development, scanty pubic hair and a blind-ending vagina with no uterus. Karyotype is 46,XY. Which hormone profile is expected?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Raised testosterone and raised LH
Testes produce AMH, so the Mullerian structures regress and there is no uterus. The androgen receptor is defective, so testosterone cannot act and feedback is lost, raising LH and testosterone, some of which is aromatised to oestrogen giving breast development.
Option by option
A. Low testosterone and low LH
Low testosterone and LH would indicate hypogonadotropic hypogonadism.
B. Low testosterone and raised FSH
Low testosterone with high FSH is testicular failure.
C. Raised oestradiol and low LH
Low LH with raised oestradiol does not fit the feedback in this syndrome.
D. Raised testosterone and raised LH (correct)
Correct. Resistance to androgen leaves LH and testosterone raised.
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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