A girl has primary amenorrhea with normal ovaries, absent internal genitalia but normal external genitalia. Most probable diagnosis?:
Correct Answer: Mayer-Rokitansky-Kuster-Hauser syndrome
Description: The questions says that the girl has normal ovaries which rules out.
• Turners syndrome where streak gonads are seen
• Noonans syndrome
• Androgen insensitivity syndrome - gonads are testis.
So by exclusion our answer is Mayer-Rokitansky Kuster-Hauser Syndrome.
Mullerian agenesis or mayer-okintansky-Kuster-hauser syndrome is a congenital malformation characterized by a failure of the Mullerian ducts to develop, resulting in absent uterus and variable malformations of the vagina, while both ovaries are intact and functioning.
Ovaries are present and function normally so secondary sexual characteristics are normal. External genitalia are also normal as testosterone is absent.
Category:
Gynaecology & Obstetrics
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