A 14-year-old girl presents with primary amenorrhea and short stature. Physical examination reveals a webbed neck, widely spaced nipples, and a low posterior hairline. Echocardiography shows coarctation of the aorta. Which karyotype is most likely?

• A 47,XXY
• B 46,XY
• C 47,XX,+21
• D 45,X ✓

Explanation

Turner syndrome results from complete or partial monosomy of the X chromosome, most commonly 45,X. It classically presents with short stature, ovarian dysgenesis causing primary amenorrhea, and a webbed neck. Cardiovascular anomalies such as coarctation of the aorta are common. Option A is Klinefelter syndrome, C is Down syndrome, and B is Swyer syndrome, which lacks the webbed neck and aortic coarctation.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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