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Anatomy · Embryology: 21-hydroxylase deficiency and Mullerian ducts
Sample itemA 46,XX newborn with raised 17-hydroxyprogesterone has an enlarged clitoris and fused labioscrotal folds, but ultrasound shows a uterus and ovaries. Why are the internal genital organs female?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. No testes are present, so no anti-Mullerian hormone is made
Fetal Sertoli cells in the testis secrete anti-Mullerian hormone, which causes Mullerian duct regression. In a 46,XX fetus with congenital adrenal hyperplasia there are no testes, so the uterus and tubes develop, while excess adrenal androgens virilise the external genitalia.
Option by option
A. Adrenal androgens inactivate anti-Mullerian hormone
Adrenal androgens do not inactivate anti-Mullerian hormone, which is simply not produced.
B. Maternal oestrogen preserves the paramesonephric ducts
Maternal oestrogen is not the determinant of Mullerian duct persistence.
C. Excess androgens induce differentiation of the Mullerian ducts
Androgens do not induce Mullerian development; they affect the Wolffian ducts and external genitalia.
D. No testes are present, so no anti-Mullerian hormone is made (correct)
Correct. Without testes there is no anti-Mullerian hormone, so the paramesonephric ducts persist.
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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