What is the cause of my Child’s Hypospadias?

Several parents of hypospadias children ask me one question, typically at the end of a detailed discussion about the plan of treatment of their child: Doctor, what is the cause of this hypospadias? Why did our child get this problem?
I tell them, this is a very difficult question to answer!

On a serious note, we know a lot about hypospadias; the types, severity of hypospadias, treatment (surgery), timing and techniques of surgery, post-operative care, follow-up after surgery and the short & long term results. Over the last several decades, there have been tremendous improvements in the understanding of hypospadias surgery. However, despite extensive research, we know very little about the actual cause of hypospadias in most children that are born with the problem.

In the course of writing the first comprehensive book on hypospadias surgery (the first book of its kind in Asia), I read through a lot of available literature on the causation (otherwise called ‘etiology’ in medical jargon) of hypospadias.

Here is the Summary for Parents of Hypospadias Kids:

1. In most children, hypospadias is an isolated defect, meaning, it is not associated with any genetic defect or other birth defects. So, it is something like a ‘manufacturing defect’, without a specific known cause. It may be partly genetic predisposition, or more likely, an external environmental influence that has caused it. Several environmental factors like food and water contamination with chemicals have been implicated, but nothing has been proven. However, the good news for the parents is that most of these hypospadias can be treated with excellent results (in the hands of experts, of course). 
2. In some children (mostly those with severe hypospadias), hypospadias may be associated with defects in one or both testis, small penis (called micropenis), reduced sensitivity of tissues to the action of the male hormone testosterone (called Androgen Insensitivity Syndrome, AIS), or the presence of some female internal structures. These children sometimes have a genetic cause, which can be determined by genetic testing, including a karyotype analysis. These children may require hormone treatment with Testosterone before the corrective surgery for hypospadias. Thus, treatment of these children involves the expertise of multiple specialist doctors, including the Hypospadias surgeon, pediatric endocrinologist, and geneticist. In expert surgeon’s hands, even these children can be expected to have a good result of hypospadias surgery (some of the severe cases may require 2 stages for hypospadias correction). However, these children need timely evaluation and long-term follow-up for best results.

In conclusion, parents will be relieved to know that most children with hypospadias don’t have any serious underlying cause for the hypospadias or any other associated defect. Some children, especially severe cases, may need further testing and multi-speciality care.