Aphallia

Aphallia is a congenital condition in which the penis doesn’t develop during fetal development. It comes from Ancient Greek words that mean “absent” and “penis.” It also affects the hole where pee leaves your body (urethral opening or meatus). Typically, the urethral opening forms at the tip of the penis. But if you have aphallia (pronounced “uh-FAL-ee-uh”), it’s often in the space between your anus and genitals (perineum).

Aphallia is rare. It happens in about 1 out of every 10 million to 30 million births.

Another name for aphallia is penile agenesis.

What is aphallia in females?

Some experts believe that “aphallia” should refer to any baby born without corporal tissue — the spongy tissue that fills with blood during sexual arousal. Both the penis and clitoris contain this tissue, so the condition could potentially affect males or females. But experts find it more often in males.

Symptoms of aphallia

Aphallia symptoms include:

• Not having a penis, but having a scrotum and testicles
• Having karyotype test results that typically align with having male (46, XY) or female (46, XX) chromosomes

Aphallia can also affect your emotional and mental well-being. It may influence how you see yourself or how you interact with others. Some people with aphallia experience:

• Low self-esteem
• Anxiety
• Depression
• Stress

Aphallia causes

Experts aren’t sure what causes aphallia. It occurs during fetal development for reasons we don’t yet understand. Nothing you did caused it.

Complications

Babies with aphallia may have other issues in their urinary system. These may include abnormal kidney function and urinary bladder problems. They may also be more likely to develop urinary tract infections (UTIs). UTIs increase the risk of sepsis.

How doctors diagnose this condition

Healthcare providers can diagnose aphallia before birth (prenatally). Though sometimes, they may misclassify a male as female prenatally because of the aphallia.

They can also diagnose it during a physical examination after birth. They may recommend blood or imaging tests to confirm their diagnosis, too.

How is aphallia treated?

The first step is to look for and treat any other serious congenital problems. These problems may be life-threatening.

The next step is to make sure your baby can pee. Sometimes, a surgeon may need to perform a vesicostomy. If your baby can’t drain pee on their own, this surgery creates a new way for pee to leave their body.

During the first years of life, your child may have surgery to create a penis (phalloplasty) and a urethra (urethroplasty). A specialized urologist will help decide the best methods for these surgeries.

A multidisciplinary team will help with any surgery decisions. A multidisciplinary team is a group of healthcare providers who specialize in conditions that affect different parts of your body.

When should I see my healthcare provider?

You may feel like you need to make a lot of big decisions if your child has aphallia. But it’s important to take one step at a time. Your child will go through a lot of physical, emotional and intellectual changes as they grow up. Regular check-ups with their care team can help guide you and your child through these changes.

During your appointments, you may wish to ask questions like:

• When should I talk to my child about aphallia?
• How should I talk about it with my child?
• How should I talk about it with our family and friends?
• How do I make decisions about their medical care?
• Can you recommend a counselor?
• Can you recommend support groups?

What can I expect if my child has this condition?

If your child has aphallia without any other complications, their outlook is good. But if they have other complications, it can be very serious. These may include problems breathing or missing essential organs. Your child’s healthcare providers will give you a better idea of what to expect.

Can people with aphallia reproduce?

In most cases, you can still have biological children if you have functioning testicles. But you may need a procedure to remove sperm from your testicles, like microTESE.

What is the difference between buried penis and aphallia?

In some cases, your child may have a penis, but it isn’t easy to see. To diagnose aphallia, your child’s healthcare provider may rule out other conditions with similar symptoms. These include:

• Buried penis
• Hypospadias
• Micropenis

They may also diagnose differences of sex development (DSD). DSD is when babies have genitals that don’t look typically male or female and/or they don’t match the chromosomal sex.