The Correlation of Promoter Polymorphism and Expression of Androgen Receptor Gene with Hypospadia Incidence

Introduction: Hypospadia is one of the most common congenital abnormalities, yet the exact cause remains unknown. Androgen Receptor (AR) is suspected to cause hypospadias.

Methods: As many as 49 post-operative prepuces of hypospadia patients and 49 normal prepuces from elective circumcision were recruited. Materials of this study were prepuces of hypospadia patients and normal children’s prepuces. The prepuces were collected from residual tissue of the patients who underwent operation. The operation was a standard procedure done by urologist in the hospital.

Utilization of residual prepuces as study material could be an ethical issue. Therefore, explanation to patient’s parents about purpose, advantage, and disadvantage of the study was necessary. All cost needed to examine AR gene polymorphism and expression was borne by authors. Confidentiality of the study was guaranteed.

Results: The result of this study showed no AR polymorphisms in experimental and control group. AR gene over-expression was found in experimental group, and it was statistically significant (p = 0.001). From this study, we found that AR gene over-expression was correlated with hypospadia incidence.