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CASE REPORT article

Front. Surg.
Sec. Pediatric Urology
Volume 12 - 2025 | doi: 10.3389/fsurg.2025.1524953

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

Provisionally accepted
Giorgia Romano Giorgia Romano Giovanni Rollo Giovanni Rollo *Lorna Spagnol Lorna Spagnol Mafalda Mucciolo Mafalda Mucciolo Ottavio Adorisio Ottavio Adorisio *Massimiliano Silveri Massimiliano Silveri
  • Bambino Gesù Children's Hospital (IRCCS), Rome, Italy

The final, formatted version of the article will be published soon.

    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 severe hypospadias cases.While genetic investigation isn't routine for all severe hypospadias cases, Next Generation Sequencing (NGS) technologies have influenced the rate of correct diagnoses, reduced diagnostic delay, and helped to determine the need for focused medical care and timely treatment. Too commonly, surgeons tend to attach importance to malformation repair and disregard the genetic diagnoses, but we believe that precise genetic diagnosis improves the accuracy of DSD management in terms of prognostic predictions, the development of an individualized management plan and the determination of treatment options.

    Keywords: DSD 46,XY, Hypospadias, Severe hypospadias, Surgery, pediatric, Genetic Testing

    Received: 08 Nov 2024; Accepted: 17 Jan 2025.

    Copyright: © 2025 Romano, Rollo, Spagnol, Mucciolo, Adorisio and Silveri. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Giovanni Rollo, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy
    Ottavio Adorisio, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy

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