Winter 2003                                     CARES Foundation, Inc.
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Virilized Girls with CAH: Surgery Considerations 

So, you have just been told that your baby girl has a genetic disorder called Classical Congenital Adrenal Hyperplasia. You are scared, confused and upset. Aside from the medical aspects of the disease—adrenal crisis, the need for medication and careful medical monitoring for the rest of her life, you are now confronted with the decision of what to do with her genitals. They don’t look like your conception of what a normal female should look like. Should your daughter undergo reconstructive surgery? Below are a few key points to consider.

OUR PHILOSOPHY:

CARES Foundation, Inc. is here to support all CAH families and affected individuals. In the past most virilized girls with CAH underwent surgery—often called "feminizing genitoplasty"—due to a long held belief in the importance of "normal" looking genitalia for healthy social and sexual development. Recently, the importance and desirability of correcting the genitalia has been questioned by some. Though many families still opt for surgical correction in infancy, some have now chosen to wait until the child is older and can be involved in the decision-making process. Still others will not consider surgery at all for their daughters. This is a personal decision to be made by the family, in consultation with their physicians, based on the medical situation specific to each child. CARES Foundation does not endorse any specific course of action, but is here to support all families under all circumstances.

IS SURGERY THE RIGHT DECISION? --INFORMED CONSENT:

Parents need to be informed about all their options regarding surgery. Is the surgery really "necessary"? The difference between a surgical procedure that is medically necessary and one that is purely cosmetic is an important consideration, and one that is not always black or white. For instance, some parents might consider the construction of a vagina in a female to be "necessary", whereas reducing the size of the clitoris may be seen as merely "cosmetic"—therefore they may opt for the former procedure but not the latter. Some may see neither procedure as being necessary, at least not before menstruation (why do you need a vagina as a child?), while others might fear that the social or psychological consequences of "being different" are so great that surgical correction is truly "medically necessary". Others might argue that a procedure need not be "necessary" in the strictest sense to be beneficial and desirable.

Most would agree that conditions that threaten health need to be repaired—such as a blockage or other anomaly that causes urine to reflux (back up) into the bladder or the kidneys that can lead to infection.

There are no right or wrong answers for every case. Each case and every family is different. Only you can decide what will work for best for your daughter and your family. You will be tempted to ask the doctors "what would you do?" But, ultimately, you need to make the decision. Unfortunately, there are few studies that look at long- term follow-up of CAH reconstructive surgery, and no studies that compare the well being of those that have had surgery to those who haven’t.

Be sure to weigh carefully all facts, testimonies and resources that are available to you before arriving at a decision. Remember that once you have opted for a surgical procedure, it will not be reversible.

THE PEDIATRIC UROLOGIST/SURGEON:

CARES Foundation, Inc. also believes that the skill and experience of the pediatric urologist/surgeon is of foremost importance. The 2002 CAH Consensus Statement from Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology states that surgery "should only be performed in centers with significant experience", and further defines this as "a center with experience of at least 3-4 cases/year". This often means that you may have difficulty finding a surgeon with the requisite experience in your state, since there are only a few centers in the US that meet these criteria. The surgeon should be willing to let you know exactly how many genital reconstruction surgeries he/she performs each year. If the answer seems vague to you, i.e. "I’ve done several" or "a few", press for a more specific answer to your question. Don’t be afraid to ask for "before and after" pictures. The

response to your inquires should give you a pretty good idea of whether you wish to put your daughter in the hands of that particular surgeon. Remember, a good physician will never resent you seeking a second opinion.

CARES Foundation, Inc. can provide you with a list of pediatric urological surgeons who are experienced with these types of surgeries. This is not to suggest that they are the only qualified surgeons. It is important that you select a surgeon that you and your daughter will be happy with—you’re likely to have a relationship for many years to come.

PSYCHOLOGICAL SUPPORT:

CARES Foundation, Inc. believes that your decision should not be made without support. As parents, there is a great deal of pressure to make the right decision for your daughter and to understand all aspects of the surgery as best you can. If your daughter is under the care of a pediatric endocrinologist at a major medical center, you may have already been directed to a psychologist, social worker or therapist experienced in helping parents deal with serious illness. Psychologists specialize just as physicians do, so it is important to find a psychologist who is trained to identify and meet your child’s special needs. Pediatric psychologists focus on the development of children who have medical conditions, and their families. Unfortunately, not all institutions have psychologists or other counselors skilled in dealing with CAH and related disorders. Just as in the case of surgeons, CARES Foundation, Inc. can help you to identify a qualified mental health professional. We believe that only the parents, in consultation with the endocrinologist and surgeon, and with the support of an experienced psychologist, can decide what is best for their daughter given the extent of virilization and medical issues of each individual child.

Developing a long-term relationship with a mental health professional will also be beneficial to your child as she grows. You can expect that she will have many questions about her body and her disease. A good mental health professional can help you to answer questions thoughtfully and can counsel your child when she needs support.

In addition, CARES Foundation can connect you with other parents with CAH girls who can lend support, listen and share their experiences.

SEX ASSIGNMENT:

A sex assignment of female is recommended for the vast majority of CAH virilized 46, XX infants. This preserves the child’s fertility and is in line with the child’s chromosomes. The issue of sex assignment only really arises with the Prader 5 infant (extremely virilized—completely resembles male genitilia). Some have suggested that these infants should be raised as males. However, there have been very few children born in the US where this choice has been made and no published studies reviewing these few cases. The issue was raised because some investigators speculated that Prader 5 infants would have greater brain effects of testosterone, mirroring the effect on their genitilia, and therefore be prone to gender dysphoria. However, the few reports that exist on CAH women who elect to change their sex assignment as adults indicate that they come from Prader 3,4 and 5, not just Prader 5, and that in general, gender dysphoria is quite rare in CAH in all Prader categories. As a result, the 2002 CAH Consensus Statement states that, "there is insufficient evidence to support rearing a 46, XX infant at Prader stage 5 as male".

This is a different situation from a child who is mis-identified at birth as male and raised as a male for some significant period of time, then determined in later childhood to be 46, XX with CAH. The Consensus statement recommends that

"[c]onsideration for sex reassignment must be undertaken only after thorough psychological evaluation of patient and family. Surgery appropriate to gender assignment should be undertaken after a period of endocrine treatment". In these cases, the patient may remain in a male gender assignment and may consider surgery and pharmaceutical treatment to accomplish this. This may include

removal of the ovaries, testicular implants and hormone therapy. Mastectomy may be desired as well. Some patients, under these circumstances, do choose a female sex assignment and may consider genitoplasty surgery.

TIMING OF SURGICAL PROCEDURES:

Some adult women with CAH have urged parents to defer the decision on non –life threatening reconstructive surgery until the child is mature enough to participate in the decision making process. Others are glad that they did not have the burden of making that decision. There is little guidance here and parents must make a decision that works for their family.

If early surgery is chosen, The 2002 CAH Consensus Statement states, "[b]ased on recent clinical experience, the recommended time for surgery is at 2-6 months, although this is not universal practice. It is important to note that surgery is technically easier than at later stages." However, with that said, it is most important that you, as parents, have had the time to gather all of the information about surgery and have full informed consent. Early surgery is only rarely necessary, so you must feel comfortable with this decision.

CLITORAL REDUCTION AND VAGINOPLASTY:

Clitoral reduction surgery and vaginoplasty are two separate procedures, but are often done at the same time when early surgery is chosen. Clitoral reduction surgery involves reducing the size of the clitoris by removing a portion of the erectile tissue. If done properly, the nerve bundles are preserved and carefully placed intact. The CAH Consensus Statement states that, "[s]urgery to reduce clitoral size requires careful consideration. Total removal of the clitoris should never be performed. If clitoral reduction is elected, it is crucial to preserve the neurovascular bundle, the glans, and the preputial skin related to the glans…. The early operation should be a one-stage complete repair using the newest techniques of vaginoplasty, clitoral and labial surgery…"

Vaginoplasty involves rebuilding the vaginal area to improve functioning of the vagina and urethra. Adult women with CAH caution that any surgery to the genital area will reduce sexual sensitivity. The CAH consensus statement says, "We acknowledge that there are concerns about early surgery. However, surgical techniques have improved. We urge caution in judging outcome from outdated procedures. Systematic studies are needed to evaluate ultimate function for all girls undergoing surgery." The adult women with CAH, note that it is difficult to obtain functioning data due to the fact that this surgery is done in infancy and functioning cannot be evaluated well until the child becomes sexually active.

SUMMARY:

The lack of reliable data makes this decision all the more difficult for the parents. Each child is different and each family has different values and thoughts about this process. As parents, we do our best under the circumstances and given the resources available to us at the time. This is all that you can do. So, make sure that you have done your homework, obtained support, thought about it long and hard, and if surgery is elected, see the best, most experienced surgeon you have access to.

OTHER RELATED CONSIDERATIONS

PROTECTING YOUR CHILD’S MODESTY AND PRIVACY:

As parents, you must be sensitive to your child’s privacy and modesty--especially as she grows older. Most major institutions with experienced specialists in CAH will also be "teaching" hospitals. In such an environment your doctor may feel it’s appropriate (even an obligation) to allow doctors in training—medical students, residents, fellows--to learn from her condition. Physicians do have to be trained, and remember, this is how the doctor that takes care of your daughter learned. Unfortunately, what is best for training physicians is not always best for patients—especially children. Adults with CAH often speak of the shame of being "put on display" as part of the teaching process. Though not an issue with infants, for older children this can be embarrassing, confusing, and stressful. Once you establish a relationship with a physician--probably a pediatric endocrinologist--insist that he/she be the one who follows your child routinely, and that genital exams be done only by them if possible. A fellow (specialist in training) may become part of the team, but ask that it be the same fellow at each visit and someone who is expected to be involved for several years. Open discussion with your child about her condition and the need and reason for doctor visits may help to reduce anxiety.

Your doctor may wish to take photos of your child. This could be an appropriate alternative to a parade of doctors needing to "see for themselves". They also allow for progressive follow-up, teaching, and education of the families seeking answers. It is best if the physician take the pictures, and only after an explanation of how the pictures may be used, and sensitive reassurance given as to privacy and confidentiality. Older children should give their own consent.

SECRECY AND SHAME:

When adult women with CAH look back at their childhood experience, many of them report that their most painful memories revolve around a sense of secrecy and shame. Some of these women did not even know they had undergone genital surgery until they were well into adulthood. In the past, parents were often encouraged by their doctors not to discuss genital differences or surgery, to discourage questions by the child, and to keep the situation secret from extended family members. This practice stemmed from an unproven belief that focusing on genital differences might lead to ambivalence on the part of the child (or even parent)—and might eventually result in an unstable gender identity.

Though perhaps well intentioned at the time, the policy was ultimately damaging—in some cases disastrous. Secrecy did not eliminate conflict or anxiety in the child—it fanned it. Children have radar for lies and deception. Silence is interpreted as shame. In the absence of light, children will invent scenarios far worse than the truth.

CARES Foundation strongly encourages families and physicians to be open and honest about all aspects of your child’s condition and medical care. Most physicians now accept that dishonesty with their patients—even children—is never ethically acceptable. Your child’s questions should be answered in an age appropriate manner (see below). If you don’t know the answer, simply tell them that—and find someone who does. Though not always easy, honesty truly is the best policy.

How do I talk to my child about her condition and surgery?

ANSWER

by Susan Baker, Ph.D.:

What to tell an affected child, and at what age is a very complex question. The answer largely depends on the child’s sex, age, and the family situation, so has to be discussed and decided on a case-by-case basis. For example, some children are very curious and ask a lot about their medical condition, why they have to go to the doctor, get tests and so on when their siblings don’t. Such questions should always be fully and honestly answered in age appropriate ways.

A special case with respect to information is that of young girls who have had genital surgery. Most young girls won't have the background information to ask or wonder about the early surgery, (unless they had a poor genitoplasty) to ask, for example, why they look different in their genital area than their sisters . In such cases it is usually best to wait until the child's own questions and resulting increasing knowledge about their medical condition lead up naturally to their learning about the early surgery. If information is given at the right pace this usually occurs at or near the teen years, a time when most girls have learned discretion, and when many may need to be fully informed so as to partake in the decision whether to have or defer vaginoplasty if it wasn’t done in infancy. (If the child doesn't ask, one can egg her [or him on non surgical issues] on to start doing so with questions like, "How come you never asked why you have to see the doctor every so many months?" and so on.)

For a young teen to understand having had the surgery (and maybe the need for a vaginoplasty, which they will need to think and make decisions about), they need to have a pretty good basic understanding of CAH. I usually do this with our patients starting at age 5 to 7, seeing the child every year or so, again varying with the child’s temperament and family. I meet with the child alone, then finish by asking the child if she would be willing for us to meet with her parents and for her to tell them what we talked about, with me to help if she gets stuck. That way everyone walks away knowing what was discussed, and able to discuss it at home. It also gives me a check on whether the child had a misunderstanding of anything we talked about. Telling too young children who don't have such a background about surgery can be scary for them, and leave them feeling frightened and confused. Also telling them before they have a sense of the consequences if they talk about what they have learned to other children without using discretion can cause another set of problems.

It is most important for parents to be open to informing their children as the children grow. Parents with a

classical CAH affected child, particularly parents of an affected daughter with a genital birth defect often feel traumatized long after the birth and sex determination. Sometimes this leads them to not want to tell their children anything, feeling that their children will feel the same trauma. When this happens to the parents, the parents unwittingly pass on to the child the sense that there IS something wrong, but it is something too awful and scary to ask or talk about. These children later grow up to feel, among other things, that there is a failure of trust between them and their parents, and that they were lied to by parents and doctors alike.

What to tell and when is very individual, as I said at the start. The only absolute rule I have that doesn't depend on the specifics of the family is that you must never lie or evade with a child. It is okay to say, "I'm not sure of the answer to that, let me call the doctor and find out?" even if you just need to buy a little time to think over your response to a tricky question. But you must get back and answer the question, in an age appropriate way. If the child never asks questions, parents have to ask themselves if they have been sending subtle messages to the child that she (this occurs more often with girls for the reasons mentioned above) had better not ask any questions about what she has, why she goes to the doctor, why she has blood tests frequently, why she has to take medication, and so on. If this occurs it is a signal that it is time to get experienced professional help.

I would like to thank the following people for their help with this article: Dr. Sheri Berenbaum, Dr. David Sandberg, Dr. Scott Rivkees, Dr. Dix Poppas, Dr. Rick Rink, Dr. Garry Warne, parents—Michelle, Adina and Kaye, and the stories of CAH adult women.

 

 

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