Unusual Neonatal Presentation of 48,XXYY - Takeaways - MDSpire

Unusual Neonatal Presentation of 48,XXYY

Dual presentation expands known phenotypic spectrum of the syndrome

  • By

  • Jess Allerton

  • February 10, 2026

  • 3 min

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  • 1

    The case report describes a rare neonatal presentation of 48,XXYY syndrome with ambiguous genitalia and Tetralogy of Fallot.

  • 2

    48,XXYY syndrome is an uncommon sex chromosome aneuploidy occurring in approximately 1 in 18,000 to 1 in 50,000 live male births.

  • 3

    Neonatal diagnosis of 48,XXYY syndrome is rare, with most individuals diagnosed during childhood for developmental or endocrine issues.

  • 4

    The infant in the report presented with bilateral inguinal testes, micropenis, perineal hypospadias, and was admitted due to cyanosis.

  • 5

    This case expands the known clinical spectrum of 48,XXYY syndrome and emphasizes the need for early genetic and cardiac evaluations.

Original Source(s)

Unusual Neonatal Presentation of 48,XXYY

  • by Jess Allerton

  • February 10, 2026

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