The audit of our small series demonstrates that, at least in childhood, and with appropriate medical care and psychological support, it is possible to defer genital surgery. Whilst so far no major concerns have been reported from patients and their families, it remains unclear whether patients will continue to accept their diversity as they grow.
Clitoromegaly may be obvious enough to peers and may become the element and basis of bullying. One would have to put this in context of the current vogue among ‘normal’ women (with no genital ambiguity) to readily explore their genital area and opt for plastic surgery to their normal labia minora or clitoral prepuce, in order to diminish tissue that protrudes in the genital region . In this current trend, a girl growing with clitoromegaly and ambiguous genitalia should be under frequent psychological support to enable better understanding of the condition and reinforce strategies to cope with being diverse.
Nevertheless, the degree of clitoromegaly may not be accurately assessed at birth as the newborn’s genitals are under the full influence of adrenal androgens and maternal oestrogens. Although clitoromegaly is not reversible, anecdotal reports and our experience suggest that the clitoris could decrease in size as higher doses of glucocorticoid and mineralocorticoid replacement are instituted for the first year of life. Furthermore, as the child grows the relative larger size of the clitoris might become less evident.
A personalized regimen of glucocorticoids needs to be defined within the therapeutic window, maintaining complete suppression of androstenedione and testosterone production and avoiding the unwanted effects of chronic hypercorticism. Individualized dosage and daily administration timing should be defined pragmatically in each patient instead of a per kg dogmatic prescription expected to fit all cases.
Compliance to medication is a reported concern in 21-OHD, particularly when adolescents start to be more rebellious and independent, omitting dosages or resisting and resenting treatment all together. This explains why a proportion of patients operated in childhood may need revisions to the clitoris in adolescence because of regrowth of tissue in puberty, due to a resurgence of androgens. With this in mind a stricter control with more frequent visits and better psychological support would be required in adolescence .
When the girl reaches adolescence, an examination under anaesthesia, a cystoscopy and vaginoplasty will allow for an accurate evaluation of the girl’s genitalia, including measuring the width and length of the clitoris and assessing the distance of the urethral and vaginal confluence to the perineum and the caliber of the vagina. This examination is usually organized on a day surgery basis and can easily be accommodated around school commitments, so as to interfere to a minimum with the lifestyle of the girl.
A vaginoplasty performed in adolescence is technically similar to the one performed in infancy. Advantages in adolescence are the larger caliber of the proximal vagina, allowing for a better end result at the level of anastomosis. Certainly the presence of oestrogens should allow for easier tissue plane identification and postoperative healing. Further to these technical advantages, an adolescent is in a better position to perform postoperative vaginal dilation, which will be required to avoid the formation of strictures, a complication often reported in the literature in as high as 50% of patients having had a vaginoplasty in childhood [2, 5, 6, 11].
Irrespective of potential technical benefits of performing surgery later in life, a major ethical advantage stems from the fact that the patient herself can be involved in the decision to proceed or not with an operation to the clitoris, taking into account the implications of surgery, the benefits to appearance and the possible risks to genital sensation and sexual function. It is perceived that a number of patients may opt against surgery all together as they grow, either because of a decreased size of the clitoris (relative or true) or because of a concern of effects of surgery on genital sensitivity. In either case it can be her choice to proceed to a clitoral reduction, even if the parent or guardian still has the legal responsibility for the operation.
We will collect preliminary results over the next few years, regarding concerns stemming from the ambiguity of the genitalia during childhood. However, the final outcome of a study should be long term adjustment, both with regards to sexuality and quality of life. It is obvious that these results will be available fifteen to twenty years from now, when current infants with 21-OHD will be entering adolescence and adulthood. Development of a prospective study with long follow up needs planning not only with regards to a well-designed protocol and measures to decrease dropout rates and patients lost to follow up. We also need to provide continuity of care within our service, to the next generation of researchers and clinicians, the current trainees or young specialists that will be gathering and analyzing results in the future.