Hypospadias: the cause of penis malformation is still a matter of debate
This is part of our series on hidden or stigmatised health conditions in men. Read the other articles in the series here.
Hypospadias is a malformation of the penis that is present from birth. In hypospadias, the opening of the urethra (the tube that drains urine from the bladder) is misplaced somewhere along the underside of the penis instead of being at the tip.
The degrees of severity vary, depending on the position of the opening. It can sit within the glans (the tip of the penis), on the shaft of the penis itself, or even within the scrotum, between the two testes.
Although the incidence varies among regions, hypospadias affects approximately one in 250 male children. Of these, 70% comprise less severe forms, where the opening is relatively close to the tip of the penis, while 30% are affected by more severe forms.
Most cases are diagnosed at birth or during childhood, when parents or doctors find the penis is abnormal during a physical examination. However, it is not uncommon in adult urology departments to see older patients with mild forms of hypospadias.
Symptoms can include abnormal spraying of urine or having to sit down to urinate. In addition, hypospadias patients may also have other features such as a downward curve in the penis (called chordee) or an incomplete foreskin. In these latter cases the foreskin is absent on the underside of the penis so that it resembles a hood on the upperside and as a consequence is known as a hooded foreskin.
In most cases, hypospadias is not associated with any other problems or disorders, and the condition is referred to as "isolated hypospadias". Sometimes, it can be associated with other genital anomalies, such as cryptorchidism (a condition where the testes are not properly descended into the scrotum) or micropenis (a condition where the penis is shorter than expected for age).
It can also be part of the wide spectrum of disorders of sex development, a large number of conditions where the development of the genitals is atypical. Hypospadias can occasionally be found in association with multiple syndromes, where it may be one of many malformations.
The underlying cause of hypospadias is still a matter of debate. Around 10% of hypospadias cases run in the family. Current thinking is that hypospadias may be caused by both genetic and environmental factors.
Changes in genes required for normal development of the testes or penis have been shown to contribute to hypospadias in around 30% of cases. However, these kinds of genetic changes do not explain all cases of hypospadias.
It is believed the environment also plays a role. Some substances found in our daily environment, such as hormonal medications or chemicals found in industry or agriculture, can modify the way our genetic information is expressed (epigenetics). These chemicals can disrupt the regulation of genes associated with normal penis development by causing them to be turned down or off.
The aim of any medical treatment is to give the patient the best quality of life possible. Most cases will require surgical intervention to correct the curvature and bring the opening as close as possible to the tip of the penis. The aim is to improve both urination and sexual activity.
In some minor cases, however, the surgery will be only cosmetic, to correct the hooded foreskin. In these cases, choice is usually left to the patients or their parents.
Depending on the severity of the hypospadias, the consequences of having surgery/treatment or not will vary. Minor cases usually require a single surgical procedure and will have good outcomes, meaning the patient can have normal urination and sexual function.
In more severe cases, surgery is more complex and has a higher complication rate, especially in terms of urinary function. For sexual and psychological outcomes, however, long-term studies report good results in all forms of hypospadias.
Andrew Sinclair, Deputy Director of the Murdoch Childrens Research Institute, Murdoch Childrens Research Institute; Aurore Bouty, Paediatric surgeon, Genetics Master student , Murdoch Childrens Research Institute, and Katie Ayers, Postdoctoral Fellow, Molecular Development Group and Honorary Fellow, Department of Paediatrics, Murdoch Childrens Research Institute