Aphallia is a condition that’s present at birth. The word itself means “absent penis.” In addition to the penis not developing, the urinary opening isn’t located in the typical place. The first thing to do is to treat any serious complications.
Aphallia, which means “absent penis,” is a rare congenital condition (one that’s present from birth) where the penis fails to develop during embryonic growth. Further, the urethral opening (urinary outlet) isn’t located in the typical place. It’s often in the perineal area (the space between your anus and genitals).
Another name for aphallia is penile agenesis.
Some researchers believe that “aphallia” should be used to describe the situation when a baby is born without corporal tissue — the spongy tissue that fills with blood during sexual excitement. The penis and clitoris both contain this type of tissue. Using this definition, the term “aphallia” describes a condition that happens to infants who otherwise are genetically male or female, XY or XX sexual chromosomes, respectively.
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Aphallia is a rare condition. It happens in 1 in 10 million to 30 million births, according to one estimate. The condition is found most often in babies assigned male at birth (XY sexual chromosomes).
In some cases, the penis may be there but isn’t visible. To diagnose aphallia, a healthcare provider may have to exclude other conditions first, including:
The symptoms of aphallia include:
A provider can diagnose this condition prenatally (before birth).
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The cause of aphallia is unknown. However, researchers do know fetal development (the growth of the fertilized egg) doesn’t happen in a typical way (agenesis).
Providers can diagnose aphallia during a physical examination. But they may order blood tests or imaging tests to confirm the diagnosis.
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When a provider suspects aphallia in a newborn child, the first step is to look for other congenital malformations that may threaten the child’s life.
The next priority is to make sure the baby is able to urinate (that pee can leave their body through a hole). Sometimes, a vesicostomy is required to create a way for urine to leave their body if an obstruction exists.
During the first years of life, your child may have surgery to create a penis (phalloplasty) and a urethra (urethroplasty). A specialized surgeon will help decide the best method for these procedures.
Traditionally, providers have assigned female sex, or gender, to infants with aphallia even though the infants had testes. The traditional treatment has been to perform feminizing surgery (feminizing genitoplasty). In many cases, as the children grew older, the sex/gender that providers assigned at birth didn’t match their authentic gender identity.
Many healthcare providers now believe that working toward a phalloplasty (creating a penis) is a better solution for a genetically male child until the child is old enough to be confident in their sex and make their own decisions on how to go forward. After puberty, surgeons can perform a second phalloplasty to provide an adult-sized penis. Erectile function isn’t expected.
Because the cause of aphallia is unknown, there’s no way to prevent it. During genetic counseling, you can discuss genetic conditions and prenatal diagnosis. This can help inform and prepare parents before conception and/or birth.
General recommendations of a healthy lifestyle will always benefit a person who is and their fetus.
If your child has aphallia without any other complications, the prognosis is good. The outlook becomes a little worse if there are additional medical issues. Some of the complications can be very serious. These may include breathing difficulties and missing certain organs necessary for life.
It’s normal to feel like you have to make many big decisions when your child is born, but this isn’t necessary. It’s important to take one step at a time. Your child will go through many physical, emotional and intellectual changes growing up. In order to be in the best condition to handle these changes, parents and families can benefit from counseling.
It’s preferable that parents have a close relationship with their child’s healthcare team. The providers will set expectations for the parent or parents. You should feel free to contact the providers with any questions or concerns.
You may want to ask your provider questions like:
Healthcare providers have diagnosed fewer than 100 people in the world with aphallia. Many of these people aren’t yet adults. Treating aphallia in an adult presents more difficulty than treating it in a child.
A note from Cleveland Clinic
Hearing that your child has a congenital condition (one they’re born with) that makes them in any way different from the child you expected is a difficult thing for a parent. You’re not alone in feeling scared, upset, worried or even angry. It’s important to take the time you need to make decisions for your child’s welfare and to deal with the most serious decisions first. Take the opportunity to talk with your healthcare team to get suggestions on how to proceed.
Last reviewed on 10/03/2022.
Learn more about the Health Library and our editorial process.
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy