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OBG · Gynecology: primary amenorrhea
Sample itemA 16-year-old has normal breast development, absent uterus on imaging, and a short blind-ending vagina. What diagnosis is most likely?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Mullerian agenesis
Mullerian agenesis causes congenital absence of uterus and upper vagina with normal ovaries and therefore normal secondary sexual characteristics. It should be differentiated from androgen insensitivity, which has absent uterus but sparse pubic hair.
Option by option
A. Mullerian agenesis (correct)
Correct. Normal breasts with absent uterus and short vagina fit Mullerian agenesis.
B. Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism causes delayed or absent secondary sexual development.
C. Complete androgen insensitivity syndrome
Androgen insensitivity usually has scant pubic and axillary hair and testes.
D. Turner syndrome
Turner syndrome causes gonadal dysgenesis and poor breast development without treatment.
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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