Hypospadias (pronounced hype-oh-spay-dee-us) is a birth defect where the opening of the urethra, the tube that carries urine from the bladder to the outside of the body, is not located at the tip of the penis. Depending on the severity of the condition, it can affect the penile function and one’s self-perception. It is a common condition that can be treated with surgery in some cases; however, a decision to proceed with surgery needs to be carefully thought through and discussed among the provider, parents and patients.
The current standard treatment for hypospadias starts with the provider defining the severity of the condition. The severity is based on the location of the urethral meatus, the external opening of the urethra, and the penile curvature. Based on the severity, some patients may be offered surgery as a next step. Surgery involves using local tissue from one part of the patient’s body to relocate the urethral opening to the correct position at the tip of the penis. To date, assessment of the tissue is subjective, and therefore, it is hard for surgeons to repeat the process moving forward.
Dr. Nicolas Fernandez, a pediatric urologist at Seattle Children’s and surgeon scientist at the University of Washington, is working on a research project that aims to reduce this subjectivity and explore new approaches to better assess structural and genetic components of the tissue used for surgery. He is doing so by proposing a novel approach to evaluate hypospadias.
By using technology to detect small genetic differences that can lead to big changes in an individual’s physical characteristics and by applying artificial intelligence on patients with hypospadias, providers can improve clustering of individuals with similar characteristics to ensure a more accurate prediction for treatment and surgery for this condition. This ultimately leads to better, more impactful outcomes for the patient and family.
Dr. Fernandez spoke with On the Pulse about his research.
What are the primary goals of your research and this new approach?
This research project has two main aims:
- To standardize observable characteristics of individuals using digital image analysis
- To associate standardized characteristics with microscopic tissue and genetic code for all hypospadias cases
This data will support future research using comprehensive characteristics and genetic code of patients to build predictive algorithms using artificial intelligence to more quickly and accurately treat patients with hypospadias.
What does your research tell us that we didn’t know before?
This new approach will allow us to explore the wide range of signs and symptoms that can occur in people with the same genetic condition as well as those with the particular genes variant associated with hypospadias. Additionally, it will allow us to dig deeper into how determining genetic code may lead to more accurate clinical and surgical predictions for this condition as well as for surgical outcomes.
How will this research affect future patients?
With this new approach, patient and parent counseling will be more accurate and support currently unanswered questions about the cause of the condition, potential future fertility and risk of recurrence. It will also allow patients and parents to make more accurate and informed decisions about treatment options and surgery.
By determining genetic code and using artificial intelligence, providers will have a more accurate treatment and surgery plan for patients with hypospadias, which ultimately leads to better, more impactful outcomes.
- Fernandez, N., Flórez-Valencia, L., Prada, J. G., Chua, M., & Villanueva, C. (2021). Standardization of penile angle estimation with a semi-automated algorithm. Journal of Pediatric Urology, 17(2), 226.e1-226.e6. https://doi.org/10.1016/j.jpurol.2021.01.006.
- Fernandez, N., Lorenzo, A. J., Rickard, M., Chua, M., Pippi-Salle, J. L., Perez, J., Braga, L. H., & Matava, C. (2021). Digital Pattern Recognition for the Identification and Classification of Hypospadias Using Artificial Intelligence vs Experienced Pediatric Urologist. Urology, 147, 264–269. https://doi.org/10.1016/j.urology.2020.09.019
- Fernández, N., Pabon, J., Ayala, P., Pérez, J., Ortiz, A. M., & Zarante, I. (2018). Description of a novel variant in the MAMLD1 gene in isolated hypospadias. Urologia Colombiana, 27, 105–109. https://doi.org/10.1016/j.uroco.2016.09.001
- Fernández, N., Pérez, J., & Zarante, I. (2015). Is hypospadias a spectrum of different diseases? MAMLD1 gen: A new candidate gene for hypospadias. Urologia Colombiana, 24(3), 155–160. https://doi.org/10.1016/j.uroco.2015.10.007