Proximal Hypospadias and a Novel WT1 Variant: When Should Genetic Testing Be Considered?
| Autor: | Earl Y. Cheng, Yasmin Gosiengfiao, Emilie K. Johnson, Elizabeth A. Leeth, Courtney Finlayson, Amy E. Armstrong, Elizabeth Dabrowski |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
medicine.diagnostic_test business.industry Genetic variants Wilms' tumor medicine.disease Bioinformatics 03 medical and health sciences 030104 developmental biology Hypospadias Male patient Pediatrics Perinatology and Child Health Atypia Medicine Sex organ Disorders of sex development business Genetic testing |
| Zdroj: | Pediatrics. 141:S491-S495 |
| ISSN: | 1098-4275 0031-4005 |
| DOI: | 10.1542/peds.2017-0230 |
| Popis: | We present a case of an infant with proximal hypospadias, penoscrotal transposition, and bilaterally descended testes found to have a clinically significant WT1 gene alteration on a customized disorder of sex development genetic panel in which 62 genes associated with 46, XY disorders of sex development were evaluated. This diagnosis led to early screening for and diagnosis and treatment of Wilms tumor. Patients with proximal hypospadias are not routinely evaluated by genetic testing, and when initial hormonal analyses are within normal ranges for a typical male patient, the genital atypia is usually attributed to an isolated anatomic abnormality. There is no consensus among urologists, endocrinologists, or geneticists regarding when genetic testing is warranted in these patients or the extent of genetic testing that should be pursued. However, given advances in genetic testing and the discovery of more genetic variants, the genetic evaluation of infants with proximal hypospadias should be considered on an individual patient basis. Only with continued evaluation and the identification of further genetic variants can we establish future parameters for genetic evaluation in patients with proximal hypospadias and more appropriately counsel patients and their families regarding the implications of these variants. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|