A 22-year-old woman presents with primary amenorrhea, absent uterus on ultrasound, and normal secondary sexual characteristics including breast development and pubic hair. Karyotype is 46,XY. The diagnosis is:

• A Androgen insensitivity syndrome (complete) ✓
• B Turner syndrome
• C Congenital adrenal hyperplasia
• D Mayer-Rokitansky-Kuster-Hauser syndrome

Explanation

Complete androgen insensitivity syndrome (CAIS) presents with primary amenorrhea, absent uterus (due to anti-Müllerian hormone from testes), absent or sparse pubic and axillary hair, well-developed breasts (from aromatization of testosterone to estrogen), and a 46,XY karyotype. MRKH syndrome has 46,XX karyotype with absent uterus. Turner syndrome has a 45,X karyotype with primary ovarian failure.

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

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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