A 22-year-old woman with primary amenorrhea has normal breast development, a blind vaginal pouch, and absent uterus on ultrasound. Serum testosterone is in the normal female range. What is the most likely diagnosis?

• A Turner syndrome
• B Complete androgen insensitivity syndrome
• C Swyer syndrome
• D Müllerian agenesis (MRKH syndrome) ✓

Explanation

Müllerian agenesis (MRKH syndrome) presents with primary amenorrhea, normal breast development (ovarian function is normal), absent uterus, and a blind vaginal pouch. Complete androgen insensitivity syndrome also presents similarly but has a 46,XY karyotype and undescended testes with male-range testosterone. Turner syndrome has streak gonads and lack of breast development.

Reference: Williams Gynecology, 4th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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