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Ambiguous Genitalia

Ambiguous genitalia look neither male nor female, but instead is a mix of the two, or is a mix when considered with the chromosomes of the individual. This is what is usually referred to when speaking of Intersex or DSD (disorder of sexual development, though clearly agenesis fits here too). A baby with XX or female pattern chromosomes may be born with what looks like a complete penis but empty scrotum. This is the extreme presentation of CAH, congenital adrenal hyperplasia. A baby with XY or 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 AIS, (complete) androgen insensitivity syndrome. PAIS, partial androgen insensitivity, can lead to 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.

Atypical Genitalia

Most resources conflate Atypical and Ambiguous genitalia. Atypical genitalia is probably best described as genitals that are different than what most observers would expect at birth, but unambiguously male or female in appearance. Examples would be labial hypertrophy or “winged labia”, a hydrocele that appears at first glance like a third testis/testicle, or an extended foreskin that appears “droopy” covering the penis and extending well beyond the penis when it is flaccid. Rarely, there will be a doubling of the penis, where the individual appears to have two penises; usually one functions and the other, usually vestigial or smaller organ, does not. None of these require surgery, but often surgery is performed to “correct” the genital difference. Genitals may also be absent, called agenesis, but this is also very rare.

Epispadias: Incontinence

Achievement of continence is problematic with exstrophy, as none of the normal structures to control the bladder exist, and 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.

By the way, people with hypospadias can have difficulty with incontinence, too, although it’s 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 these issues can be “right sized” as the person accepts that incontinence is just another physical problem that we learn to deal with.

Note: Incontinence pads and briefs for men and women are available (you can buy them online if you’re shy) and they work pretty well, as I’ve learned from experience. –Betty

Epispadias: Fertility and Pregnancy

Fertility in men with isolated epispadias is often lower than fertiity in the normal population. Abnormal ejaculation, lower sperm counts 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. The gynecologist/obstetrician may decide to monitor pregnant women with epispadias more often and more carefully.

Epispadias: Treatment

Treatment is surgical in all cases. The main goal of surgery for the exstrophy is 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-Ransey 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 & Incidence

Epispadias is caused by malformation of the embryonic genital turbercle 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 urethal 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 1 in 120,000, and isolated epispadias in females once in 500.000.

Epiapadias: Description

Epispadias is a malformation of the male 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 meatus.

Epispadias is always a part of the exstrophy 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

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 re-created 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 sometime provide some temporary relief, but it is never really a solution to the problem. Dilating a strictured urethra just serves to re-traumatize the already scared 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

Hypospadias Repair Surgery

Informed Consent

In this section, we would like to present information of importance to anyone who is considering a surgery for hypospadias repair for their child, or themselves.

First off, HEA does not have an official position on surgery, whatsoever. We feel that the need for surgery is a personal determination and one of our organizational missions is to insure that all the information is available to the patient, and his decision is based on sound and solid advice and fact. No one can truly make an informed decision without all the possible outcomes of the procedure described and discussed–this is known as informed consent. In just about every legal system, informed consent is a patient right and the responsibilities to the patient on the part of the health care provider is codified in civil law.

Risks

All surgical procedures carry a degree of risk, it does not matter if the procedure is circumcision or open heart surgery. Most of the risks that a patient takes in surgery are the common ones, like bleeding, infection, adverse reaction to anesthesia, failure to heal, scarring and the like. Hypospadias surgeries will range from the very simple “touch up” of a glanular hypospadias without chordee, to the most severe case of penoscrotal hypospadias with severe chordee, requiring creation of a complete urethra in multiple staged surgeries. No one would argue that the child with the most severe case of hypospadias will require surgery, often to allow basic sexual and normal urinary function where none existed previously. For this child the risk of surgery is clearly a sensible undertaking compared to the benefit of undergoing procedures.

As the hypospadias becomes more distal, or less severe, the functional impact on daily life and sexual activity is not as great, and in the vast majority of mild coronal cases, no surgery is often chosen. Surgery in the mildest cases is cosmetic in benefit and will not confer much functional improvement to the patient, if at all. In this case, the risk is relatively higher, since the benefit of the process is not as great as it was for the first patient with severe impairment of function. The basic risks are still the same. In this case, the patient has more choices and options, since he can choose to do nothing.

Choosing No Treatment

About 60 to 65% of all cases of hypospadias are of the coronal or glanular type, which means the defect is confined to the glans or head of the penis or just at the junction of glans and shaft. For the most part, these children can urinate standing, and the erection is straight enough for intercourse in adulthood. A great majority of men and boys in this classification of hypospadias do not have corrective surgery, so this is a completely valid option that many parents have chosen.

Complications Normally Associated with Hypospadias Repair

Note that there is no guarantee of success, nor does the possibility of having a complication mean that any particular patient will have complications…the following is presented as a description of the complications of surgery we have experienced as a collective group of patients.

Wound Breakdown and Fistulae

The most frequent complication of hypospadias surgery is wound breakdown during the healing process, or surgeries that “fall apart” or grafts and flaps that fail to “take.” A re-do session is often the only recourse in these cases. Fistulae are passages from the urethra to the surface of the penis that leak or spray urine. These are usually always caused by failure of the healing process along a suture line, and most modern repair techniques avoid allowing suture holes in the various tissue layers to line up, creating paths for leaks. Separate closure of layers and good technique are the best defense against a fistula. It is possible for a fistula to open months or years after a surgery, when it is thought that the penis had completely healed.

Strictures

All incisions in tissue will incur some degree of scarring during healing, including internal structures like the lining of the urethra. A stricture is a local scar formation in the urethra which restricts or stops the flow of urine. Stricturing is the main cause for revision of childhood surgeries in adult patients. It seems that there is a definitely lifespan to hypospadias surgeries performed using earlier techniques, and we advise men in this situation to find a specialist in adult hypospadias revision surgery. Adult and pediatric hypospadias is not the same thing, and adult hypospadias repair is a growing specialty in urologic surgery. Newer techniques like buccal mucosa grafts that use the lining of the mouth to fashion new urethra have far less risk of stricture formation, since buccal mucosa is very scar resistant. The downside is that two surgical sites are created to recuperate from. Buccal Mucosa surgeries are still fairly new, so long term longevity of these repairs is not known.

Hair Growth in Urethra

Older surgeries often grafted hair bearing skin for urethroplasties, and when the child became an adolescent, hair would grow in the urethra causing discomfort and urinary dysfunction. The use of hair bearing skin is avoided in current practice. Laser ablatement of the hair can bring some relief, but often a repeat urethroplasty is necessary.

Scarring

Scarring of the skin of the penis and glans can result in loss of sensation, or change in existing sensation that may be positive or negative. It is very uncommon for sensation to be completely impaired, but extensive scarring from multiple procedures in the past may make it necessary to remove all scarred tissue and begin with fresh grafts. Scarring can be very upsetting to the patient anxious about the appearance of his penis.

Expectations for the outcome of surgery is something you must discuss with your surgeon. In the past, ability to urinate standing and a straight erection for intercourse was the yardstick by which hypospadias surgery was judged. To be charitable, some of the aesthetics of surgeries following this doctrine were less than optimal. It was almost a universal given that the penis would be circumcised in the process. Now, the appearance of the penis has become very important, and foreskin reconstruction is practiced for those who wish to remain intact. As a patient and consumer of your surgeons’ services, it is up to you to discuss your expectations of the outcome of the surgery and make sure you understand the goals your surgeon is working to achieve in the procedure. Although the technique now is very good and aesthetics are much better than in the past, the surgeon must still work with what the patient brings to the operating table; the basic proportions and size of the penis cannot be changed.

Psychological Considerations

The discussion so far has centered on physical and functional concerns of hypospadias. Psychologically, living with hypospadias can be very complicated, and while one man with a mild case has no concerns or problems whatsoever, the next may find his mild hypospadias a huge burden in life, and surgery becomes an obsession. Simply having surgery is not going to change a life pattern and correct all the issues one faces in life overnight. This is why an honest discussion of the mental aspects of surgery is very important, with the assistance of a mental health professional or other trusted persons as a support mechanism for the patient moving forward.

Hypospadias Treatment

The treatment for hypospadias is surgery. There are over 200 published techniques and surgical procedures that correct hypospadias and it isn’t possible to delve into much detail here. The need for surgery ranges from optional in the mild forms, to becoming necessary to allow function in the more severe cases. Each case of hypospadias must be evaluated on its own merits. Frequently, chordee must be corrected before hypospadias can be addressed, since chordee can affect the degree of hypospadias. While single stage surgeries are becoming more routine, it is likely that a two-stage procedure will be chosen in cases of severe chordee, or severe hypospadias and chordee. Chordee repair will occur in the first stage, and typically six months later a second surgery is scheduled to revise the location of the urinary opening.

HEA recommendations regarding surgery:

  • Do not rush into a decision. Hypospadias is not life threatening and will not change or get worse in time. There is no emergency, and no need for haste. Take your time.
  • Gather as much information as you need to make a decision you are comfortable with. Choose a surgeon who is familiar with the degree of hypospadias you or your child has, and one who has experience in that severity of hypospadias.
  • Parents should consider delaying surgery until the child is old enough to take part in decision making.
  • Adults should seek out specialists in adult hypospadias repair, or revision of childhood surgeries. Pediatric hypospadias repair is not the same as adult surgery. Adult hypospadias repair is a recognized specialty in urology. In addition, some plastic surgeons specialize in hypospadias repair and re-repair.
  • Ensure that you communicate your expectations of the outcome to the surgeon and that you understand that certain things are possible and others are not. For years the standard of care was to create a straight erection for intercourse and a good stream to allow urination while standing. Cosmetics were not given a high priority. This is changing and the appearance of the penis after repair is good with modern surgeries. What cannot be done is to create a penis that is larger than it was to begin with. While the penis may appear longer after chordee repair, it is simply a straightening of the penis the patient had to begin with.
  • Consider doing nothing. Surgery always leads to scarring, which can develop into strictures, which can require further surgery to repair. Surgery always leads to a loss of some sensation. This loss of sensation may range from slight to highly problematic. Surgery frequently involves loss of some tissue (even when tissue from the foreskin, buccal mucosa, or other areas is added to re-form problematic structures). Repeated surgeries on the penis can mean loss of more and more tissue, which in some cases can mean reduction or loss of function.

by Douglas J