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Anatomy · Embryology: paramesonephric duct anomalies
Sample itemA 17-year-old girl has primary amenorrhoea. She has normal breast development, normal pubic and axillary hair, a short blind-ending vagina and a 46,XX karyotype. Ultrasound shows normal ovaries but no uterus. What is the embryological basis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Agenesis of the paramesonephric ducts
In Mayer-Rokitansky-Kuster-Hauser syndrome the paramesonephric ducts fail to develop, so the uterus, tubes and upper vagina are absent while the ovaries and secondary sexual characteristics are normal.
Option by option
A. Gonadal dysgenesis with streak ovaries
Streak ovaries would cause absent breast development and raised gonadotrophins.
B. Agenesis of the paramesonephric ducts (correct)
Correct. Absent paramesonephric ducts explain a missing uterus with normal ovaries and normal puberty.
C. Failed canalisation of the vaginal plate alone
Failure of vaginal plate canalisation alone leaves a uterus present and causes cryptomenorrhoea.
D. Androgen receptor failure in target tissues
Androgen insensitivity occurs in 46,XY individuals with scanty pubic hair.
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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