Turner syndrome — MRCPCH FOP MCQ

Correct answer: E — Karyotype testing

Short stature with webbed neck, widely spaced nipples and neonatal lymphoedema suggests Turner syndrome, confirmed by karyotype. Thyroid disease can cause poor growth but does not explain the dysmorphic features. Creatine kinase assesses muscle disease rather than chromosomal short stature. The pearl is that Turner syndrome should be considered in girls with unexplained short stature even without obvious pubertal delay.

Reference: RCPCH growth charts; BSPED Turner syndrome guidance