Unusual Neonatal Presentation of 48,XXYY

Dual presentation expands known phenotypic spectrum of the syndrome

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The case report describes a rare neonatal presentation of 48,XXYY syndrome with ambiguous genitalia and Tetralogy of Fallot.
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48,XXYY syndrome is an uncommon sex chromosome aneuploidy occurring in approximately 1 in 18,000 to 1 in 50,000 live male births.
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Neonatal diagnosis of 48,XXYY syndrome is rare, with most individuals diagnosed during childhood for developmental or endocrine issues.
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The infant in the report presented with bilateral inguinal testes, micropenis, perineal hypospadias, and was admitted due to cyanosis.
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This case expands the known clinical spectrum of 48,XXYY syndrome and emphasizes the need for early genetic and cardiac evaluations.

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