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Ambiguous Genitalia

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Ambiguous genitalia are genitals that do not look clearly male or clearly female. Instead, they may appear to have characteristics of both female and male genitalia or may be developed incompletely at birth. This is what is often referred to when the term “intersex” or DSD (disorder of sex development) is used. A baby with XX (female-pattern) chromosomes may be born with what looks like a complete penis but an empty scrotum. This is the extreme presentation of congenital adrenal hyperplasia (CAH). A baby with XY (male-pattern) chromosomes may be born with what looks like normal female genitals but a shallow or “blind” vagina that does not lead to a uterus. This is the presentation of complete androgen insensitivity syndrome. Another form of androgen insensitivity syndrome called partial androgen insensitivity syndrome can have an array of genital differences, all along the spectrum between male and female. Incomplete CAH can lead to a variety of partially masculinized genitals, also all along the spectrum.

Some boys with hypospadias have ambiguous genitalia, especially when the hypospadias is severe and the testes are undescended. However, most baby boys with hypospadias do not have any genital ambiguity.

Atypical Genitalia

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Most resources conflate atypical and ambiguous genitalia. Atypical genitalia are probably best described as genitals that are different from what is normally expected at birth, but they may be unambiguously male or female in appearance. Examples include labial hypertrophy or “winged labia”; a hydrocele (a fluid-filled sac in the scrotum) that appears at first glance like a third testis; and an extended foreskin that appears “droopy,” covers the penis, and extends well beyond the penis when it is flaccid. Genitals may also be absent, but this is very rare.

Epispadias: Incontinence

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Achievement of continence is problematic with exstrophy, as none of the normal structures to control the bladder exist, and they must be created through surgical intervention. Some techniques include vesicostomies, Mitrofanoff diversions, augmentation of bladder volume with sections of sigmoid colon, and so forth. In some cases, normal voiding through the penile urethra can occur, but in others a diversion of the urinary flow through means of clean intermittent catheterization through a stoma, or surgically created port, is necessary. Artificial bladder neck devices to control the bladder are available. Some individuals with epispadias experience incontinence, but others do not (see https://www.urologyhealth.org/urologic-conditions/epispadias).

By the way, people with hypospadias can have difficulty with incontinence, too, although it is often more a leaking situation rather than a reduction in bladder voiding control. Lots of other conditions can cause incontinence, such as spinal cord damage or weakness of the pelvic floor muscles. Incontinence issues can be difficult to handle emotionally, but various treatments are available.

Note: Incontinence pads and briefs for men and women are available (you can buy them online if you’re shy).

Epispadias: Fertility and Pregnancy

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Fertility in men with isolated epispadias is often lower than fertiity in the normal population. Abnormal ejaculation, a lower sperm count, or azoospermia is seen in roughly half to three quarters of men with exstrophy-epispadias complex. Theoretically, if normal sperm are present in the testicles of these men, the potential for fatherhood exists, but assisted fertility techniques may be required to overcome poor sperm quality.

Women with epispadias who are pregnant may have more difficulty carrying their baby to term than other women because of differences in their pelvises and other organs. Gynecologist/obstetricians may decide to monitor pregnant women with epispadias more often and more carefully.

Epispadias: Treatment

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Treatment is surgical in all cases. If bladder exstrophy is also present, the main goals of surgery for the exstrophy are closure of the abdominal wall and formation of a bladder, if one can be salvaged. The spacing or width of the pelvis can can be abnormal in cases of exstrophy, called diastasis, and surgery to rotate and join the halves of the pelvis often takes place in infancy.

Epispadias is corrected with techniques like the Cantwell-Ransley approach to close the urethra and the Kelly procedure. The main difference in epispadias is that the penis is very wide and very short. The erectile chambers or cavernosa in the epispadic penis are separated and are not connected to each other, which is not the case in the typical penis or hypospadic penis. The aim of the Kelly procedure is to bring the portions of the penis anchored to the pelvis together to conserve and liberate as much length as possible so the proportions of the penis are more typical. Correction of chordee follows standard techniques practiced in hypospadias repair.

Epispadias: Causes and Incidence

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Epispadias is caused by malformation of the embryonic genital tubercle and cloacal membrane sometime in the 5th or 6th week of pregnancy. It is not related to hypospadias, which is thought to be a hormonally moderated defect of penile formation and closure of the urethral plate, which takes place about 8 weeks after conception.

Estimates are that epispadias with exstrophy occurs about once every 30,000 births, isolated epispadias without exstrophy in males about once in 120,000, and isolated epispadias in females about once in 500,000.

Epispadias: Description

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In males, epispadias is a malformation of the genitalia in which the urethra ends or opens on the upper surface of the penis. This birth defect is most commonly observed as a part of the exstrophy-epispadias complex, which is a spectrum of failures of midline fusion affecting the pelvis, abdominal wall, and bladder. Characteristics of epispadias include a very short and wide penis, often classified as complete epispadias when the entire urethra is exposed from the abdominal wall to the tip of the penis. There is usually upward bending or chordee associated with epispadias.

Epispadias can also occur in females, where it is manifested as a split clitoris and displacement of the urinary opening.

Epispadias is always a part of the exstrophy-epispadias complex, but can also occur as an isolated birth difference in a child with an otherwise normal bladder, pelvis, and abdominal wall.

Adult Surgical Re-Repair for Hypospadias

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So, something is not feeling quite right down there. . . . Maybe you are noticing your stream decreasing when you void, or pain in your testicle or your side or lower back. It might hurt a bit when you void or you find you have to strain to empty your bladder. Maybe you are feeling lumps or hard spot in your penis, discomfort during sexual activity, or maybe you are having a lot of urinary tract infections. What does it mean?

You try to ignore it, but it won’t go away. You may start having flashbacks to surgeries you had down there as a boy. You want to do anything to avoid having to admit that something might be wrong, something that might require surgery.

Unfortunately this is a very common situation. Most urologists don’t do any type of long term follow up studies on all the boys with hypospadias or epispadias that they successfully “fix.” If they did the actual “success rates” would likely be very low, because as we age there is a good chance we may need some type of re-repair.

The unfortunate reality is that there is no perfect solution when a doctor tries to rebuild, recreate or repair part of our body, especially if foreign tissue is introduced or tissue not made for that purpose is given a new form (i.e. re-building a urethra using foreskin or skin from the inner arm, thigh, or bladder). There is a good chance such repairs will have a shelf life and you will need to consider having a re-repair later in life.

From experience, we hear story after story of guys who were “fixed” as children and then, if they are lucky, they hit their mid 30’s or early 40’s and start to realize that something is going wrong. This can bring up all sorts of psychological issues and past trauma for the person.

The following is a list of some of the issues or complications that can happen:

  • Strictures (this seems to be the most frequently occurring issue by far)
  • Narrowing of the meatus (opening of the urethra)
  • Blockages such as those resulting from hair growing in the urethra
  • Stones in the urethra (possibly due to hair growth in the urethra)
  • Epididymitis (pain in that passage way from the testicle to the urethra)
  • Fistulas (an extra hole that fluids can pass through—like springing a leak)
  • Diverticulum (a widening of an area along the urethra that pouches out when filled with fluid)
  • Chronic urinary tract infections

The most common issue is urethral stricture disease. A stricture is a narrowing of the urethra that causes the stream pressure to reduce when voiding. It also causes pressure on the systems located behind the stricture. Things can back up and cause problems eventually for the prostate, the bladder, the kidneys and the testicles. Strictures can be the result of scar tissue building up inside a recreated urethra. It could be the result of the foreign tissue that was used to recreate or patch up the urethra breaking down, or problems with the area where the newer tissue meets the original tissue. Sometimes the tissue doesn’t have good blood flow, or it may not respond to sex hormones the same way the original tissue does.

The most common initial solution for strictures seems to be to dilate the urethra. This involves inserting a tool to stretch the strictured part of the urethra to make it wider. This can sometimes provide some temporary relief, but it is never really a solution to the problem. Dilating a strictured urethra just serves to retraumatize the already scarred tissue, and it is likely that this will eventually make the situation worse.

Usually, at some point you will have to face the possibility that you will indeed need some sort of re-repair. This can be a very hard reality to face. You may have gone years since ever being in the hospital because of your penis. People around you might not know about your issues with hypospadias or epispadias and will wonder what medical problems you are having, especially if you have to miss work for surgery.

  • How do you tell your loved ones, family members, or close friends about the situation?
  • What do you say to your employers and co-workers?
  • How do you find the right doctor?
  • What about health insurance?

Many of the traumatizing emotional feelings that may have been locked up for years can start to come flooding back to the surface as you realize you may need further surgery.

Even if you have a supportive spouse, partner, or close family members, it can be very difficult to really feel supported or feel that they understand the emotions attached to this situation. In reality they can’t truly understand, as much as they might want to. This is why it is so important to find supports that know what you are going through—supports that you can only really get from other guys with HS or ES. With the connections available through the internet and social networking systems you no longer need to feel alone or isolated when facing adult re-repairs for your HS or ES. Groups like HEA (the Hypospadias and Epispadias Association: www.heainfo.org) can provide an opportunity for you to learn through articles, online chats and message boards, in person connections through their network of members and annual conferences, and more.

This psychosocial support is probably one of the most important factors to consider when facing an adult re-repair. It is much easier to deal with when you know you have connections with people who really understand and have been there.

By Chris in BC

Mother of Boy with Hypospadias

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Hi I am Ky and am the founder of the yahoo club Mums with hypospadias kids.

My son was born in 1992 with moderate hypospadias. Back then I had no access to computers and didn’t do any research into the topic, I was just told that it had to be fixed (and who was I to argue; I’m not a doctor). Boy, if I only knew the things I know now. Don’t get me wrong; I would have still had it corrected, but I would have had the power of knowledge at my side to fight inexperienced doctors.

My son was 7 months old when he was operated on, and all went well although at postop appointment a doctor stated to me “Oh! he has made a bit of a mess with that one.” This was all that was ever said.

When my son was 2 years old, I noticed that he looked like he only had one testicle. This had to be repaired by surgery; not one doctor had picked up on it before I noticed it.

As my son grew, I noticed that he was very embarrassed by the way his penis looked. Mind you, there was so much skin around the head of the penis, it almost looked like a hammer, so I understood his embarrassment.

When my third son was born in 1999, he was born with an undescended testicle, so since I had to go to a specialist anyway I decided to take my first son along too and ask the doctor’s opinion. While she was having a look we found three fistulas, what were these holes from, I had no idea (I have since learnt that fistulas are like blowouts in the urethra). Now it wasn’t a question of whether to have him neatened up or not; he had to have surgery anyway. Both sons were operated on the same day in February 2000; what a horrible day that was.

My first son’s catheter dropped out twice and was reinserted twice. At the postop appointment, we found that one of the fistulas was still there and leaking. It was devastating to think that he had to be operated on yet again. It has been 5 months and we have recently discovered that the fistula has closed over, YEAH!!!!

I now have a club where I help other mothers learn through my experience and try and help them by offering support, knowledge and most importantly friendship.

Healthy Little Boy with No Physical Signs of His Condition

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Hi, my name is Rebecca, and my son’s name is Will. Will was born with severe hypospadias. At birth, the doctors could not determine his sex because of the placement of the urethra and the undescended testicles. X-rays confirmed that he had no girl parts, but we still had to wait for the chromosome test to come back. This was an awful experience for a new mom who was sick for 9 months of her pregnancy. The day after Will’s birth we saw a pediatric urologist. He confirmed hypospadias and told us about the surgery options. We decided to start surgery as soon as possible. We did not want Will to have any memories of this, as it was very traumatic. We will of course tell him about it, but we did not want him to remember any pain or trauma. The first surgery was done when he was about 9 months old, and they straightened the penis, brought down one testicle, and laid the groundwork for the new urethra. The second surgery was when he was about 15 months old. During that surgery, they rebuilt the urethra to extend to the end of the penis, brought down the other testicle, and fixed a hernia. All in all, Will is a healthy little boy, with no physical signs of his condition. When he looks at himself, he will not know that he ever had a problem. All he will know of it is what I tell him. I hope this gives encouragement to all anticipating surgery that things can go well, and we wish everyone well. Thank you.

Rebecca