Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory?

Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory?

We report a case of a 4-month-old infant with severe genital malformation and a 46, XY karyotype. Genetic testing revealed a variant in the NR5A1 gene, guiding a successful multistage surgical intervention. This case underscores the value of targeted genetic testing in guiding the management of seve...

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Bibliographic Details
Main Authors: Giorgia Romano, Giovanni Rollo, Lorna Spagnol, Mafalda Mucciolo, Ottavio Adorisio, Massimiliano Silveri
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Surgery
Subjects:
DSD 46
XY
hypospadias
severe hypospadias
surgery
pediatric
Online Access:https://www.frontiersin.org/articles/10.3389/fsurg.2025.1524953/full
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