Proximal Hypospadias and a Novel WT1 Variant: When Should Genetic Testing Be Considered? Pediatrics 2018 Apr;141(Suppl 5):S491-S495
Date
04/04/2018Pubmed ID
29610178DOI
10.1542/peds.2017-0230Scopus ID
2-s2.0-85044769419 (requires institutional sign-in at Scopus site) 5 CitationsAbstract
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.
Author List
Dabrowski E, Armstrong AE, Leeth E, Johnson E, Cheng E, Gosiengfiao Y, Finlayson CAuthor
Elizabeth Dabrowski MD Assistant Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Abnormalities, MultipleEarly Diagnosis
Genetic Testing
Humans
Hypospadias
Kidney Neoplasms
Male
Mutation
Penis
Scrotum
Urethral Diseases
WT1 Proteins
Wilms Tumor
