Objective:

To report a rare case of 48,XXYY syndrome presenting with ambiguous genitalia and Tetralogy of Fallot in a neonate.

Approach:

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.

Sources:

• Clinical Case Reports
Source

Based on findings from:

Unusual Neonatal Presentation of 48,XXYY

Jess Allerton. MDSpire News, 2026.

https://news.mdspire.com/pediatrics/articles/unusual-neonatal-presentation-of-48xxyy/

Attribution Notice

This content is an AI-generated, fully rewritten summary based on a published scholarly article. It does not reproduce the original text and is not a substitute for the original publication. Readers are encouraged to consult the source for full context, data, and methodology.