Hypospadias is a congenital condition in males in which the opening of the urinary channel, called the urethra, is not located at the tip of the penis. Instead, the urethral opening can be found anywhere along the underside of the penis from the edge of the head (distal) to further done the shaft and even below the scrotum (proximal).
In addition, 1 of every 3 boys with distal, and most with proximal hypospadias also have bending of the penis. This is often referred to as “chordee”, but it is better to simply call it “curvature.”
Although the urinary stream may seem fine in infants with hypospadias, many or most will eventually have difficulty aiming because it begins to spray as they grow up. Those with even mild bending during erections are likely to have sexual dysfunction later on.
Not surprisingly, these problems, and the different appearance of the penis, can cause emotional worries and even disappointment with their penis.
Parents of newborns with hypospadias also have worries, including what they might have done that caused their son to have this birth defect, or what they could have done to prevent it. We reported on this and other concerns that we learned from a questionnaire many parents answered (), which can be found on-line free of charge. We will discuss some of the possible reasons that hypospadias happens below, but it is important to emphasize that the hypospadias is not your fault.
Incidence of Hypospadias
Hypospadias is one of the most common birth defects. In fact, 1 in every 150 to 300 boys are born with this condition. That makes it more common than Down syndrome, club foot, and cleft lip, and most other birth differences you may have heard of.
While you may read that the incidence is increasing for various reasons (pesticides, environmental estrogens, etc), reports from the 1800s found hypospadias occurred in 1 of every 300 males, similar to today even though these environmental factors did not exist then.
It is difficult to know if the likelihood of boys being born with hypospadias varies around the world and in different races, although we are not aware of a higher incidence than 1 in every 150 newborn males.
Possible Causes
Genetic factors and family history
In most cases, no other member of the family is known to have had hypospadias. However, determining that likelihood is complicated by the fact that even family members past and present may have been reluctant to mention they were born with it.
When a father has hypospadias, his son has approximately a 13% chance of having it too. Similarly, if a family has a boy with hypospadias, the chance that another boy will too is approximately 7%. Although this is more than the overall 0.5% risk, it still means that over 90% of boys in these situations will not have hypospadias.
Environmental Influences and Exposure to Endocrine Disruptors
If you search the internet you will likely read about pesticides, environmental hormones, chemicals in plastics, various foods and personal care products which theoretically could impact development of the penis before birth. Technical details of these investigations can be daunting to understand, and conclusions vary from one study to another. Furthermore, as mentioned above, the incidence of hypospadias was similar in the world before these factors existed.
Progesterone
Today many women are recommended to take progesterone to help with their pregnancy. Few of those we see because their son was subsequently born with hypospadias tell us they were told this treatment might increase the risk for hypospadias. Learning that progesterone can influence the development of hypospadias adds to the guilt mothers may already feel because of the birth defect.
However, the chance that a boy will be born with hypospadias is only slightly increased by progesterone. Meanwhile, many other boys are born without hypospadias even though their mothers took progesterone, and the mothers of most boys who do have hypospadias never had progesterone treatment. A woman who followed the advice of her OB to take progesterone to help ensure a successful pregnancy should not feel guilty if her son has hypospadias – he might have had it even if she did not take that medication.
The same is true for boys born by IVF, which includes progesterone treatment. Some will have hypospadias, while most others will not.
Prenatal diet
Soy milk is one example of a food that might influence early penis development in-utero. Again, fetal development is too complex, and the factors that might result in hypospadias too poorly understood, to isolate a single food as the cause of a boy having this condition.
Addressing Hypospadias
Most hypospadias is diagnosed in the newborn nursery, although sometimes severe hypospadias is suspected on a 20-week prenatal ultrasound.
Other problems
Most boys with hypospadias are otherwise healthy. For that reason, extensive testing is not recommended unless there are other apparent problems.
If the newborn exam does not identify both testicles, then a blood test is ordered to determine the karyotype, a description of the chromosomes. Boys normally are 46 XY, but when a testicle cannot be felt by the doctor the karyotype can be different, such as 47 XXY or 46XY/45XO. Sometimes the physician in the nursery is uncertain about a newborn with severe hypospadias and may mention the child has “ambiguous genitalia”. That term implies the child could be either a boy or a girl, meaning more testing is needed to determine the sex. However, if a testicle can be felt then the baby is a boy and does not need extensive endocrine testing. Even if testicles are present, various blood tests may be recommended when the newborn has severe hypospadias. This came from a 2008 medical congress where physicians decided they would learn more about hypospadias by testing these patients. However, most often, the currently available tests are normal even in the most severe types.
Today, other genetic problems can be detected despite the karyotype being normal. An example is 5 alpha reductase deficiency (5ARD), a condition that inhibits penis development by interfering with prenatal testosterone activity. Typical boys with this condition have a much smaller than normal penis at birth. However, screening tests sometimes report a boy with hypospadias also has 5ARD even though his penis size is normal. This is yet another example of how complex fetal development and human genetics are! A boy can even have a blood test that is positive for 5ARD but not have any of the characteristic problems of that condition.
Often parents of newborns with severe hypospadias are told their son has a “micropenis”. This diagnosis has a specific definition meaning that when stretched as it would be during an erection, the penis is shorter than in 95% of other boys. Determining this in a boy with hypospadias and penile curvature is difficult and often not accurate. In addition, the penis will be longer when it is made straight during surgery. We measure stretched penile length in all boys with hypospadias during surgery and have encountered only a very few who meet the medical definition of a micropenis once the penis is appropriately straightened.
It is good to say again that hypospadias usually happens in boys who are otherwise healthy.
Timing of surgery
Most boys with hypospadias benefit from repair to make the abnormal anatomy normal, which should also make the penis function normally and look like other penises. When that decision is reached, surgery is typically recommended sometime from 6 months of age, assuming the boy is otherwise healthy.
You may read that surgical results are better in younger boys and that there are psychological reasons to be finished with surgery by 18 months of age. These warnings can be upsetting to parents who for various reasons cannot arrange for repair within this time frame. Interestingly, in other countries outside the US surgery for hypospadias routinely is done in boys older than 18 months for a variety of reasons.
Published reports regarding the optimal age of surgery do not agree on the best time. Our own study found that the age at which the repair is done is not a factor determining the success of that surgery. We inform parents that age 6 to 12 months is a good time for repair. First, boys undergo a brief surge of testosterone that begins around 6 weeks and continues until approximately 4 months of age. This surge naturally enlarges the penis, which after that time will not grow significantly larger until puberty.
In addition, boys less than a year of age need fewer medications postoperatively than do older boys. For example, their discomfort is controlled by acetaminophen (Tylenol) and ibuprofen (Motrin or Advil) without needing narcotics. Few will need medication for bladder spasms at this age either, which older boys need. Regardless, boys who have their surgery for hypospadias completed before grade school are very unlikely to have long term memories of the experience.
There have been questions in recent years about general anesthesia in children less than 3 years of age. These came from studies in young mice exposed to extraordinary levels of anesthesia, which then affected their mental development. However, studies in young children undergoing routine operations have not found cognitive deficiencies afterwards. Furthermore, to our knowledge no national pediatric anesthesia society anywhere in the world has recommended avoiding surgery in this age group.
Parents of boys undergoing hypospadias repair can also be reassured that most of the anesthesia is obtained in them by means of nerve blocks, similar to those used by dentists, or given by OBs to women during delivery. The most common is a caudal block, which is similar to the epidural their mother most likely received, that temporarily numbs the genital region. Because the body does not sense the surgery taking place, the need for overall general anesthesia is greatly reduced – and given mostly so that the boy is not squirming during the operation.
Sometimes parents ask if it is better to delay surgery until puberty or after. This question can arise from their concerns about anesthesia. Others have read that complications can develop during the “rapid growth” of the penis during puberty. Our practice treats patients with hypospadias regardless of their age, meaning we see not only infants and boys, but also older teens and adults. Because of that, we were able to determine that the great majority of complications that happen after hypospadias repair in boys develop long before puberty. In fact, only 5% of the patients we analyzed reported their problem was first noticed during puberty.
We also see the stark differences between hypospadias surgery when it is done in younger versus older patients. First, teens and adults suffer from isolation and embarrassment, not knowing who they can talk to about their condition – certainly not their friends, and even a discussion with their parents can provoke anxiety. When a decision is finally made for surgery, they also worry what to tell their friends and teachers or co-workers about what they having done and why they will be away from school or work. Typically, they are very anxious as the day for their operation approaches, wanting to have their penis made right but afraid of the operation and the pain they will feel afterwards. Because of these concerns, we strongly recommend that all teens and adults speak with a licensed therapist about their anxieties before surgery. All of this is avoided when hypospadias repair is done in infants.
The goal of surgical intervention can be summarized as making the abnormal anatomy of hypospadias into normal penis anatomy. That involves straightening any curvature, moving the urinary opening to the tip/head of the penis (called the glans), and providing symmetric penile skin coverage around the shaft. This should provide normal urination and sexual function as the boy matures.
In most cases of distal hypospadias, a single operation can successfully accomplish this goal. However, when penile curvature of 30 degrees or more is found, a staged repair that first straightens the penis before addressing the urinary opening is best. Most boys with proximal hypospadias have 30 degrees curvature or more (the average is 70 degrees), and so they should also have a staged repair to achieve the best results. Regardless of if the hypospadias is distal or proximal, parents should know that all hypospadias surgery is delicate and precise. There is no minor hypospadias repair! In addition, it has been well-documented that not all surgeons have the same results. Many studies indicate that the best outcomes in complex operations, which hypospadias repair is, are achieved by surgeons and facilities that perform them the most often.
Seek Comprehensive Care at the Hypospadias Specialty Center
Although hypospadias is one of the most common congenital anomalies, even common birth defects are rare. A 2011 report from data collected by the American Board of Urology found that the average pediatric urologist performs one distal hypospadias repair per month and 2 proximal repairs per year (What can we learn from pediatric urology certification logs? – PubMed (nih.gov). Since that time, the number of pediatric urologists has significantly increased, although the number of boys born with hypospadias has not.
At the Hypospadias Specialty Center, repairing hypospadias (and some related penile birth defects like chordee) is all we do. We perform several hundred hypospadias operations each year, and our surgeons have completed repairs in thousands of patients. Hypospadias surgery is typically done by a surgeon and an assistant, who may be a trainee or a nurse. In contrast, at the Hypospadias Specialty Center our operations are done by a surgical team with 2 very experienced surgeons working together.
Furthermore, we have the same supporting cast of nurses and surgical techs helping every day, which allows the surgeons to focus on the important work of the operation promotes efficiency to minimize anesthesia. Similarly, anesthesia is provided by the same experts day in and day out. Everyone at the Hypospadias Specialty Center is committed to providing the best care and experience for every patient and family.
Get in touch with us today to schedule a consultation.
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