A 25-year-old woman with primary amenorrhea has normal female external genitalia, absent uterus, and normal breast development (Tanner V). Karyotype is 46,XX. FSH, LH, and estradiol are normal. Which is the most likely diagnosis?

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

Explanation

Müllerian agenesis (MRKH syndrome) presents with primary amenorrhea, absent uterus, and blind vaginal pouch in a 46,XX female with normal secondary sexual characteristics and normal gonadotropins. Androgen insensitivity is 46,XY. Turner syndrome has a 45,X karyotype with streak gonads and elevated FSH. Swyer syndrome has a 46,XY karyotype with streak gonads.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.