Unusual Neonatal Presentation of 48,XXYY
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By
February 10, 2026
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3 min
A rare neonatal case of 48,XXYY syndrome was reported, featuring ambiguous genitalia and Tetralogy of Fallot. Genetic testing is essential for newborns with disorders of sex development and congenital heart defects. 48,XXYY syndrome occurs in 1 in 18,000 to 1 in 50,000 male births and is distinct from Klinefelter syndrome. A preterm infant was examined for ambiguous genitalia and diagnosed with TOF. Specialists in several fields managed the case, underlining the syndrome's varied clinical presentation and emphasizing the need for early evaluations.
1. 48,XXYY syndrome is a rare chromosomal condition.2. Tetralogy of Fallot can occur with this syndrome.3. Early genetic testing is crucial for diagnosis.4. The reported case involved a preterm infant.5. Ambiguous genitalia is a rare presentation of this syndrome.6. Pelvic ultrasonography can identify testicular positions.7. A multidisciplinary approach is essential for management.8. Only one other case of this specific combination has been documented.
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