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Physiology · Reproduction: sexual differentiation
Sample itemA 46,XY boy has normal testes and male external genitalia, and a uterus and fallopian tubes are found at hernia repair. Which hormone or receptor is defective?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Anti-Mullerian hormone or its receptor
Sertoli cell anti-Mullerian hormone causes regression of the Mullerian ducts. If it or its receptor is defective, the uterus and tubes persist, while Leydig cell testosterone still masculinises the Wolffian ducts and the genitalia.
Option by option
A. The SRY gene product
SRY failure would prevent testis formation altogether.
B. Dihydrotestosterone formation
Lack of DHT would cause undervirilised external genitalia.
C. Testosterone synthesis
Deficient testosterone would impair Wolffian duct development and genitalia.
D. Anti-Mullerian hormone or its receptor (correct)
Correct. Failure of Mullerian regression with normal masculinisation fits AMH defect.
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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