To report a rare case of 48,XXYY syndrome presenting with ambiguous genitalia and Tetralogy of Fallot in a neonate.
Key Findings:
The infant exhibited ambiguous genitalia with bilateral inguinal testes, micropenis, and perineal hypospadias.
Cardiac evaluation revealed Tetralogy of Fallot, a rare association with 48,XXYY syndrome.
Chromosomal analysis confirmed a non-mosaic 48,XXYY karyotype.
Interpretation:
This case expands the clinical spectrum of 48,XXYY syndrome, emphasizing the need for early genetic and cardiac evaluation in newborns with ambiguous genitalia.
Limitations:
Only one prior case of ambiguous genitalia in 48,XXYY syndrome has been reported.
The rarity of the condition limits generalizability of findings.
Conclusion:
The combination of ambiguous genitalia and Tetralogy of Fallot in this neonate highlights the importance of recognizing diverse presentations of 48,XXYY syndrome.
Narrative review linked lower vitamin D levels to greater myopia risk and higher omega-3 intake to lower risk, though outdoor exposure may explain the vitamin D association.
