Overview
Understanding the disease
Risk Factors
The risk factors for developing hypospadias include:
- Family history: Hypospadias is more common in infants with a family history of the condition.
- Genetics: Certain gene variations may play a role in disrupting the hormones that stimulate the formation of the male genitals.
- Maternal age over 35: Some research suggests an increased risk of hypospadias in infant males born to women older than 35 years.
- Exposure to certain substances during pregnancy: There may be an association between hypospadias and a mother's exposure to certain hormones, hormone-disrupting compounds, or certain chemicals such as pesticides or industrial chemicals, but further studies are needed to confirm this. It is important to note that the exact cause of hypospadias is often unknown, and these risk factors may not apply to everyone with the condition.
Development
Hypospadias is a birth defect in which the opening of the urethra is located on the underside of the penis instead of at the tip. This condition develops during fetal development when certain hormones stimulate the formation of the urethra and foreskin, and a malfunction occurs in the action of these hormones, causing the urethra to develop abnormally. In most cases, the exact cause of hypospadias is unknown, but it may be associated with genetic factors and environmental influences. Family history, certain gene variations, maternal age over 35, and exposure to certain substances during pregnancy may also play a role in the development of hypospadias. Hypospadias can present with varying degrees of severity, ranging from the opening of the urethra being located within the head of the penis to the opening being in or beneath the scrotum. In most cases, hypospadias does not cause difficulty in caring for the infant, and surgery can usually restore the normal appearance of the child's penis. If left untreated, hypospadias can lead to complications such as abnormal appearance of the penis, problems learning to use a toilet, abnormal curvature of the penis with erection, and problems with impaired ejaculation.
Assessment and Diagnosis
Triage
You should see a doctor if you suspect hypospadias in your child, especially if there are concerns about the appearance of their penis or problems with urination. Most infants with hypospadias are diagnosed soon after birth while still in the hospital. However, slight displacement of the urethral opening may be subtle and more difficult to identify. If you have concerns, it is best to consult with your doctor.
Diagnosis
To diagnose hypospadias, the child's pediatrician will perform a physical exam and may refer you to a pediatric urologist for further evaluation. The pediatric urologist will check the opening of the urethra and the placement of the testicles, which may determine if the condition is minor or requires surgical intervention. In cases where the genitals are difficult to identify as clearly male or female, a multidisciplinary team may provide further evaluation.