A 22-year-old woman presents with primary amenorrhea, normal secondary sexual characteristics, and normal height. Karyotype is 46,XX. Pelvic ultrasound shows absent uterus. Serum testosterone is normal. Which diagnosis is MOST likely?

• A Turner syndrome (45,X)
• B Complete androgen insensitivity syndrome (CAIS)
• C Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome ✓
• D Asherman syndrome

Explanation

MRKH syndrome (Müllerian aplasia) presents with primary amenorrhea, normal secondary sexual characteristics (normal ovarian function), normal female karyotype 46,XX, absent or rudimentary uterus with normal or absent vagina, and normal testosterone levels. CAIS is 46,XY with female phenotype and high testosterone (male range). Turner syndrome is 45,X with absent/streak gonads and short stature. Asherman syndrome causes secondary amenorrhea with normal anatomy except intrauterine adhesions.

Reference: Shaw's Textbook of Gynaecology, 17th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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