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...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-01-01
|
| Series: | Frontiers in Surgery |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fsurg.2025.1524953/full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832576337691279360 |
|---|---|
| author | Giorgia Romano Giovanni Rollo Lorna Spagnol Mafalda Mucciolo Ottavio Adorisio Massimiliano Silveri |
| author_facet | Giorgia Romano Giovanni Rollo Lorna Spagnol Mafalda Mucciolo Ottavio Adorisio Massimiliano Silveri |
| author_sort | Giorgia Romano |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-57120074d6ec4dee8750702bcbf2df29 |
| institution | Kabale University |
| issn | 2296-875X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Surgery |
| spelling | doaj-art-57120074d6ec4dee8750702bcbf2df292025-01-31T06:39:54ZengFrontiers Media S.A.Frontiers in Surgery2296-875X2025-01-011210.3389/fsurg.2025.15249531524953Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory?Giorgia Romano0Giovanni Rollo1Lorna Spagnol2Mafalda Mucciolo3Ottavio Adorisio4Massimiliano Silveri5Surgical Andrology and Gynecology, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalySurgical Andrology and Gynecology, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalySurgical Andrology and Gynecology, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyTranslational Cytogenetics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, ItalySurgical Andrology and Gynecology, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalySurgical Andrology and Gynecology, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyWe 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.https://www.frontiersin.org/articles/10.3389/fsurg.2025.1524953/fullDSD 46XYhypospadiassevere hypospadiassurgerypediatric |
| spellingShingle | Giorgia Romano Giovanni Rollo Lorna Spagnol Mafalda Mucciolo Ottavio Adorisio Massimiliano Silveri Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory? Frontiers in Surgery DSD 46 XY hypospadias severe hypospadias surgery pediatric |
| title | Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory? |
| title_full | Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory? |
| title_fullStr | Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory? |
| title_full_unstemmed | Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory? |
| title_short | Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory? |
| title_sort | case report severe hypospadias in 46 xy karyotype patients is third level genetic testing always mandatory |
| topic | DSD 46 XY hypospadias severe hypospadias surgery pediatric |
| url | https://www.frontiersin.org/articles/10.3389/fsurg.2025.1524953/full |
| work_keys_str_mv | AT giorgiaromano casereportseverehypospadiasin46xykaryotypepatientsisthirdlevelgenetictestingalwaysmandatory AT giovannirollo casereportseverehypospadiasin46xykaryotypepatientsisthirdlevelgenetictestingalwaysmandatory AT lornaspagnol casereportseverehypospadiasin46xykaryotypepatientsisthirdlevelgenetictestingalwaysmandatory AT mafaldamucciolo casereportseverehypospadiasin46xykaryotypepatientsisthirdlevelgenetictestingalwaysmandatory AT ottavioadorisio casereportseverehypospadiasin46xykaryotypepatientsisthirdlevelgenetictestingalwaysmandatory AT massimilianosilveri casereportseverehypospadiasin46xykaryotypepatientsisthirdlevelgenetictestingalwaysmandatory |