Hypospadias is a birth abnormality in which the opening of the urethra is not at the tip of the penis. Instead, it is either somewhere along the penis or on the scrotum.

According to the Centers for Disease Control and Prevention (CDC), hypospadias is one of the most common birth abnormalities. Estimates suggest that hypospadias affects about 1 in every 200 babies.

A baby usually receives treatment for hypospadias when they are 6⁠–12 months old. However, treatment is a possibility for children of any age and adults.

Read on to learn more about hypospadias, including its causes, types, and treatment.

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Hypospadias is a birth abnormality that causes the urethra to develop in the wrong place while a baby is in the womb. The urethra is the tube that carries urine from the bladder to outside the body. The opening of the urethra typically develops on the tip of the penis.

However, in a baby with hypospadias, the opening of the urethra may form anywhere along the underside of the penis. In some cases, it appears on the scrotum.

If the urethra is in the wrong place, the person may have trouble urinating while standing up. They may also experience difficulty with sexual activity in later life.

Although hypospadias mainly occurs in male babies, it can sometimes affect females. A 2019 case report notes that female hypospadias is so rare that many textbooks do not recognize it.

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Illustration of possible urethral openings in a person with hypospadias.

The location of the urethra defines the type of hypospadias. The types of hypospadias are:

  • Glanular or subcoronal: In this form of hypospadias, the urethral opening develops near the head of the penis.
  • Distal or midshaft: In distal hypospadias, the urethral opening appears along the shaft of the penis.
  • Proximal or penoscrotal: Proximal hypospadias is when the urethral opening develops between the base of the penile shaft and the scrotum.

A 2021 article reports that about 50% of hypospadias cases are glanular, 30% are distal, and 20% are proximal.

Doctors consider glanular and distal hypospadias cases to be mild. Proximal hypospadias is a more severe and complex form.

The main symptom of hypospadias is an incorrectly placed urethra. Hypospadias can also produce several symptoms, such as:

  • chordee, which is when the penis curves slightly downward
  • an incompletely formed foreskin, where the foreskin forms on the back of the penis but not the whole way around it
  • trouble with urination, as urine can spray downward or to the sides
  • an undescended testicle

The exact cause of hypospadias is currently unknown. However, researchers believe that it can be the result of various factors, including:

Genetics

Genetics seems to play a role in the risk of developing hypospadias. Research from 2017 found that 7% of people with hypospadias had relatives with the disorder. Additionally, a male sibling of a child with hypospadias has a 9⁠–17% chance of also having the condition.

The researchers also note that hypospadias has an estimated heritability of 57–77%. However, only 30% of hypospadias cases have an obvious genetic cause.

Issues before or during pregnancy

The CDC states that babies born to females 35 years or older with obesity are more likely to have hypospadias.

Premature babies and monochorionic twins — meaning those who share one placenta — are also more likely to have hypospadias. An underdeveloped or damaged placenta could also increase the risk of a baby developing hypospadias.

Additionally, there may be a link between in vitro fertilization (IVF) and hypospadias. However, this link remains controversial, as IVF can also cause prematurity and low birth weight, with which hypospadias has associations.

Hormonal issues

Although it can develop by itself, hypospadias can also occur alongside other conditions. These conditions include undescended testicles and micropenis.

Certain hormones are essential in genital development. A hormonal deficiency is, therefore, a potential cause of hypospadias.

Additionally, the CDC reports that research has shown that females who take certain hormones before or during pregnancy are more likely to have a baby with hypospadias.

Doctors usually diagnose hypospadias at birth. A healthcare professional may check the location of the baby’s urethra and assess the foreskin and any curves in the penis.

The Urology Care Foundation notes that about 8% of male babies with hypospadias also have an undescended testicle. This symptom may also help the healthcare professional make a diagnosis.

The treatment for hypospadias can depend on the severity of the condition. If a person does not experience any issues due to their hypospadias, they may not require treatment.

Hypospadias surgery is suitable for people of any age. However, doctors usually perform it on babies aged 6⁠–18 months.

People who have more severe hypospadias may require surgery, which generally involves four parts:

  • straightening the shaft of the penis if it is curved
  • making a urinary channel
  • placing the urethral hole at the tip of the penis
  • carrying out circumcision or reconstructing the foreskin

The surgery for hypospadias generally takes about 1.5 hours for distal hypospadias. Surgery for proximal hypospadias can take up to 3 hours. If a person has proximal hypospadias with severe chordee, they may undergo surgery in stages.

A person with hypospadias may experience certain complications alongside their condition.

Babies who have hypospadias are more likely to have differences in sex development. This is when there is a difference in the baby’s chromosomes compared with the appearance of their genitals. Differences in sex development can be more common in babies with proximal or complex hypospadias.

During diagnosis, a healthcare professional may recommend an ultrasound for babies who have proximal or complex hypospadias. This is because babies with this form of the condition are more likely to have abnormalities in their urinary system.

Researchers note that 11–14% of people with hypospadias also have cysts in an area of the prostate. This increases to 50% in people with hypospadias on their perineum.

Other complications that can occur due to hypospadias include:

  • spraying of urinary stream
  • being unable to urinate standing up
  • having difficulty with sexual activity due to chordee
  • experiencing fertility issues due to problems depositing sperm
  • feeling unsatisfied with the appearance of the genitals

Emotional and psychological effects of hypospadias

Research suggests that many people with hypospadias feel embarrassed about or ashamed of their condition. A 2017 study from Indonesia found that people with atypical genital appearances reported social stigmatization. This stigmatization had links to isolation and social withdrawal.

People with hypospadias may feel as though they have to hide their condition rather than being able to talk openly about it. This can lead to conditions such as depression.

The Hypospadias and Epispadias Association offers information and support for people with hypospadias and their families.

Following treatment, people with hypospadias generally have a good long-term outcome, both functionally and cosmetically. However, they may not achieve the same level of function or have the same genital appearance as a person without hypospadias.

Occasionally, the surgery to repair hypospadias can lead to additional issues. Fistulas, or holes, are the most common problem that occurs after hypospadias surgery. Scarring can also occur inside the urethra. Both of these conditions can interrupt the passing of urine.

Doctors can usually fix any surgery-related issues about 6 months after the initial procedure.

Hypospadias is a condition that develops in an unborn baby. It results in the urethral opening developing on the wrong part of the penis or scrotum. Hypospadias mainly affects male babies, although it can very rarely occur in females.

The type of hypospadias depends on the affected part of the penis or scrotum. Proximal hypospadias is generally more severe and complex.

The cause of hypospadias is currently unknown. However, researchers believe that a number of different factors may cause it.

Hypospadias sometimes occurs alongside conditions such as chordee or undescended testicles. Doctors can repair these conditions during surgery for hypospadias.

Treatment should produce favorable functional and cosmetic results. However, certain complications can develop due to the surgery.