A 22-year-old woman with primary amenorrhoea, normal breast development, and a blind-ending vagina on examination is found to have a 46,XX karyotype with absent uterus. What is the most likely diagnosis?
- A Müllerian agenesis (Mayer-Rokitansky-Küster-Hauser syndrome) ✓
- B Androgen insensitivity syndrome
- C Turner syndrome
- D Swyer syndrome
Correct answer: A. Müllerian agenesis (Mayer-Rokitansky-Küster-Hauser syndrome)
Explanation
Müllerian agenesis (MRKH syndrome) presents with primary amenorrhoea, normal secondary sexual characteristics (breast development), absent uterus, and a blind vaginal pouch in a 46,XX individual. Androgen insensitivity syndrome has a 46,XY karyotype. Turner syndrome (45,X) shows streak ovaries and absent breast development. Swyer syndrome (46,XY) has streak gonads and absent uterus.
Reference: Speroff's Clinical Gynecologic Endocrinology and Infertility, 9th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.