A 15-year-old girl has primary amenorrhoea, short stature (147 cm), webbing of the neck, wide carrying angle, shield chest, and bicuspid aortic valve. Karyotype is 45,X. Which additional complication should be screened for regularly?
- A Wilms tumour
- B Autoimmune thyroid disease and hypothyroidism ✓
- C Medulloblastoma
- D Polycystic ovarian syndrome
Explanation
Turner syndrome (45,X) is associated with significantly increased risk of autoimmune conditions, particularly autoimmune thyroid disease (Hashimoto's thyroiditis and hypothyroidism, prevalence ~15–30%). Regular thyroid function testing is recommended annually. Other screening includes aortic coarctation/bicuspid aortic valve monitoring with cardiac MRI every 5–10 years, renal ultrasound (horseshoe kidney), and screening for inflammatory bowel disease and coeliac disease. Gonadal dysgenesis in Turner is a risk for gonadoblastoma only if Y chromosomal material is present (not in classic 45,X). Wilms tumour and medulloblastoma are not associated.
Reference: Ghai Essential Pediatrics, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.