Surgery Consideration for Girls with Classical CAH
Mia Moody, Kelly Leight, Laurie Ember and Richard C. Rink, MD
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 necessarily look like your idea of what a normal female should look like. Should your daughter undergo reconstructive genital surgery?
The decision to undergo reconstructive surgery is not one that should not be made quickly or under pressure. CARES suggests that every parent of a CAH baby girl educate themselves as much as possible about the condition and about the surgical options before considering surgery.
CARES strongly recommends that no surgery be done until:
- the child is medically stable;
- the parents are fully informed of the risks and benefits; and
- an expert surgeon is found.
Ultimately, the decision about whether and when to perform surgery is intensely personal. Whatever you choose, you must be comfortable and confident in your decision and your choice of surgeon. Please visit our page on making informed decisions to learn more about this process. Below are some frequently asked questions that may help guide you through the decision-making process.
Your daughter may look different, but she has all of the female reproductive organs. She has a uterus, vagina and ovaries. She will be able to bear children. The degree of virilization (masculinization) affecting your daughter will be can be graded on a classification known as the Prader Scale. Your daughter’s pediatric urologist or pediatric endocrinologist will be able to tell you what Prader Level she is.
A good online visual tool to better understand the Prader Scale can be found at: www.aboutkidshealth.ca from the Hospital For Sick Children in Toronto
Ultrasonography or a CT scan are often used to view the ovaries and uterus and at times the vagina can be visualized. These are non-invasive tests done on the outside of child’s abdomen.
Cystoscopy is a procedure that may be performed to view the inside structures, to determine the confluence of the vagina and urethra, and to see whether there are any obstructions. The confluence is the point internally where the two structures meet. Cystoscopy requires anesthesia (usually general anesthesia is used for babies) and is an invasive test. Cystoscopy is a test that allows her doctor to look at the inside of the bladder, urethra and vagina using a thin, lighted instrument called a cystoscope.
The cystoscope is inserted into the opening (common urogenital sinus) and slowly advanced into the bladder. Cystoscopy allows her doctor to look at areas of the bladder, urethra and vagina that usually do not show up well on X-rays. Tiny surgical instruments can be inserted through the cystoscope that allow her doctor to remove samples of tissue (biopsy) or samples of urine from each kidney if needed. Some urologists delay the cystoscopy until the time of surgery in order to eliminate the need for an additional anesthesia for the child. If there are no signs of infection or obstruction, then this is a thoughtful approach to the child’s well-being.
Most would agree that conditions that threaten health, such as a blockage or other anomalies causing urine to reflux (back up) into the bladder or the kidneys, need to be repaired.
In the absence of such a condition, however, the decision about if and when to have surgery can be made without time pressure or pressure from others. Surgical decisions can be reached by your family, or your family along with your child, depending upon her age. Each family and child is different, so the decision will depend on the family’s individual response. Do not rush to make a decision when it comes to surgery. Be sure to weigh carefully all facts, testimonies and resources that are available to you before arriving at a conclusion. Remember that once you have opted for a surgical procedure, it will not be reversible.
The surgeon should be willing to answer all your questions and to let you know exactly how many CAH reconstruction surgeries he/she performs each year. If his or her answers seem evasive or vague, i.e. “I’ve done several” or “a few”, press for a more specific answers to your question. Don’t be afraid to ask for “before and after” pictures and to speak to parents of the girls they have operated on.
The responses to your inquiries should give you a pretty good idea of whether you wish to your daughter in the hands of that particular surgeon. It is always wise to “shop” for a qualified doctor. Remember, a good physician will never resent your seeking a second opinion.
CARES Foundation, Inc. can provide you with a list of pediatric urologic surgeons who are experienced with these types of surgeries. This is not to suggest that they are the only qualified surgeons, but they are surgeons who expertise is recognized by CARES. 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.
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 at this stage is technically easier than at later stages.” “Technically easier,” refers to how “easy” it is for the surgeon and to the benefits of faster healing in babies. Very young children tend to heal faster following surgery, and the surgery is easier because the area disturbed is smaller. Also, following surgery, babies not yet walking, crawling or standing are less likely to pull stitches out with their movement.
The Consensus Statement on Management of Intersex Disorders (Hughes, et als, 2006), states: “There is inadequate evidence currently in relation to establishment of functional anatomy, to abandon the practice of early separation of the vagina and urethra. The rationale for early reconstruction is based on guidelines on the timing of genital surgery from the American Academy of Pediatrics (AAP), the beneficial effects of estrogen on tissue in early infancy and the avoidance of potential complications from the connection between the urinary tract and peritoneum via the Fallopian tubes. It is anticipated that surgical reconstruction in infancy will need to be refined at the time of puberty.”
With that said, it is most important that you, as parents, have had the time to gather all of the information about surgery, have full informed consent, have the appropriate insurance issues worked out, have chosen an experienced, expert surgeon and that the child is medically well controlled. This genital reconstructive surgery is only occasionally necessary in a strictly medical sense (obstruction, infections) in early childhood, so you must feel comfortable with this decision.
However, the CAH Consensus Statement notes, “Surgery between the age of 12 months and adolescence is not recommended in the absence of complications causing medical problems.” The basis for this statement and the choice of 12 months as the cut-off is not clear. CARES Medical Advisors have recommended that surgery, if to be done in childhood, is best done prior to toilet training due to regression in toilet training following surgery. It is also recommended that no surgery be done between the years age 2 ½-3 and adolescence due to increased risk of noticeable psychological stress in the child following surgery due to separation from parents and the hospital experience. Hence it is CARES’ recommendation that surgery be done before toilet training (or before age 2-1/2) or postponed until adolescence in the absence of medical complications.
Clitoral reduction surgery (clitoroplasty) involves reducing the size of the clitoris by removing a portion of the erectile tissue. If done properly, the nerve bundles are preserved and left intact. The CAH Consensus Statement states that, “[s]urgery to reduce the 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.”
Vaginoplasty involves rebuilding the vaginal area to improve functioning of the vagina and urethra. This involves creating a vaginal opening on the perineum separate from the urethra. It is often done by moving the recessed vagina out to the perineum or can include complete separation of the vagina from urethra at the site of confluence.
Labioplasty is the construction of the labia majora and/or minora when absent or inadequate. Most children with CAH are lacking labia minora so they are created. The labia majora , while present often require repositioning.
The Prader Scale levels along with physical and internal examination can help determine your child’s needs. Many parents of severely virilized girls with Prader Scale levels 3+ opt for early clitoroplasty to reduce the child’s psychological stress over physical differences in childhood. Using an expert surgeon for this procedure is crucial, since the clitoral tissue is very sensitive and easily damaged. While it is difficult to imagine your little baby as a grown woman, it is important to keep in mind that if done incorrectly, there could be a loss of sexual sensation later on. Also, even with the most expert surgeons, there is a risk of some loss of sexual sensation.
The Consensus Statement on Management of Intersex Disorders (Hughes, et als, 2006), states: “The surgeon has a responsibility to outline the surgical sequence and subsequent consequences from infancy to adulthood. Only surgeons with expertise in the care of children and specific training in the surgery of DSD should perform these procedures. Parents now appear to be less inclined to choose surgery for less severe clitoromegaly. Surgery should only be considered in cases of severe virilization (Prader III, IV and V) and be performed in conjunction, when appropriate, with repair of the common urogenital sinus. As orgasmic function and erectile sensation may be disturbed by clitoral surgery, the surgical procedure should be anatomically based to preserve erectile function and the innervation of the clitoris. Emphasis is on functional outcome, rather than a strictly cosmetic appearance. It is generally felt that surgery that is performed for cosmetic reasons in the first year of life relieves parental distress and improves attachment between the child and the parents. The systematic evidence for this belief is lacking.”
Hence, clitoroplasty should not be performed on mildly virilized girls—those whose virilization is below Prader 3.
After vaginoplasty, the vagina may stricture (become very tight) or stay the size it was originally constructed but this can be dealt with later when the girls are ready for the use of tampons or before sexual intercourse. Vaginal dilation must not be performed on prepubertal girls by parents and should be delayed until the girls are ready to dilate themselves. The Consensus Statement on Management of Intersex Disorders clearly states, “Vaginal dilatation should not be undertaken before puberty.”
In teenage girls and adults, dilator rods can be used. When the vaginal opening is large enough for a tampon, tampons can be used once a week for an hour or two to keep the vagina open. Once the girl begins to menstruate and use tampons regularly during menstruation, the vaginal canal should remain dilated. If the vaginal canal does not respond to dilation, an outpatient procedure to remove excess scar tissue can be performed and tampons can be used to keep the vagina open following this surgery.
Other Related Considerations
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.
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.