A Rare Neonatal Case of 48, XXYY Syndrome Presenting With Ambiguous Genitalia and Tetralogy of Fallot

Clinical Case Reports 2026 Open access

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Authors: Nour Gazzaz
DOI: 10.1002/ccr3.71839
Cited by: 0
References: 5

Abstract

Neonatal 48,XXYY syndrome can present with both ambiguous genitalia and Tetralogy of Fallot, a striking and previously unreported association. This case broadens the phenotypic spectrum and underscores the importance of integrating genetic and cardiac evaluation in all neonates with disorders of sex development.

Fields of Study & Subjects

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Sexual Differentiation and Disorders Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Clinical Case Reports
Volume
14
Issue
1
Pages
e71839–e71839
Publication date
1 January 2026
Language
EN