A newborn girl has bilateral pedal lymphoedema, a webbed neck, widely spaced nipples, and a systolic murmur loudest over the left interscapular area with weak femoral pulses. Echocardiography confirms a discrete juxtaductal narrowing of the aorta. Which additional finding is most likely on evaluation?

• A Elevated gonadotropins with streak ovaries ✓
• B Elevated maternal serum hCG on antenatal screening
• C Hypersegmented neutrophils on peripheral smear
• D Elevated sweat chloride concentration

Explanation

The neonatal lymphoedema, webbed neck, shield chest and coarctation of the aorta establish Turner syndrome (45,X). The streak ovaries lack follicles, so FSH and LH are elevated from infancy. Maternal hCG is elevated in trisomy 21, not Turner, where it may be normal or low. Sweat chloride relates to cystic fibrosis, and hypersegmented neutrophils suggest megaloblastic anaemia, neither linked to monosomy X.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.