A 6-year-old girl with short stature, webbed neck, widely spaced nipples and primary amenorrhea in adolescence is found to have karyotype 45,X. The most important investigation to perform routinely in this condition is:

• A Thyroid scan
• B Echocardiography (bicuspid aortic valve, aortic coarctation) ✓
• C EEG
• D Peripheral nerve conduction studies

Explanation

Turner syndrome (45,X) is associated with cardiovascular anomalies in 30–50% of cases, most importantly bicuspid aortic valve (30%) and coarctation of the aorta (10–15%), which can be life-threatening if undetected. Echocardiography is mandatory at diagnosis and at regular intervals. Autoimmune hypothyroidism (Hashimoto's) is also more frequent and thyroid function tests are recommended, but cardiac screening is the most critical given potentially fatal outcomes. EEG and nerve conduction studies are not indicated.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.