Long-term follow-up of female patients with congenital adrenal hyperplasia from 21-hydroxylase deficiency, with special emphasis on the results of vaginoplasty.

OBJECTIVE: To assess, in a long-term follow-up, female patients with congenital adrenal hyperplasia (CAH), with special emphasis on vaginal functional outcome and sexual activity after vaginoplasty. PATIENTS AND METHODS: Twenty-seven patients with CAH (aged 14-33 years; six Prader grade II, 14 grade III, six grade IV and one grade V) underwent surgery between 1972 and 1988. Three of the patients underwent clitoridectomy, 24 clitoroplasty and 25 vaginoplasty (24 with a Fortunoff flap and one a 'pull-through' procedure). In 20 patients the vaginoplasty was a one-stage procedure, undertaken at a mean (range) age of 3.6 (1-9) years, and in five patients a two-stage operation. The analysis was based on the patients' history and examination; the patients also completed a questionnaire, including a psychological profile.
RESULTS: Nine of the 25 patients (36%) who underwent vaginoplasty developed intravaginal stenosis; of these nine, six were Prader grade III and three grade IV. All had undergone a single-stage procedure at a mean (range) age of 4.7 (2-9) years. Of the 16 patients who answered the questionnaire, 14 had problems with their overall body image; patients in whom vaginal stenosis was corrected were particularly anxious about sexual intercourse and had problems with orgasm.
CONCLUSION: The main problem during the long-term follow-up was intravaginal stenosis; all the affected patients had undergone a single-stage procedure early in life to correct ambiguous genitalia. This high rate of vaginal stenosis suggests that vaginoplasty should be undertaken at the beginning of puberty, because higher oestrogen levels may prevent stenosis and, if necessary, dilatation can be performed by the patient. These data also underscore the importance of psychological support in the treatment of children with CAH.