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

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.

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Published
2025-09-01
DOI
https://doi.org/10.22541/au.175669202.26691698/v1
Primary Topic
Sexual Differentiation and Disorders
Type
article
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article

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

Nour Gazzaz
Sexual Differentiation and Disorders
article

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

Nour Gazzaz
article en

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.

King Abdulaziz University (SA)
Openalex Percentile: Top 80%
Sexual Differentiation and Disorders
DOIOpen Access PDFOpenAlex
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A Rare Neonatal Case of 48, XXYY Syndrome Presenting with Ambiguous Genitalia and Tetralogy of Fallot — Nour Gazzaz · (2025) | TGRS Research Map | TGRS