F1000 Commentary: Sexual function and surgical outcome in women with congential adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patient’s perception.

Nordenstrom A, Frisen L, Falhammar H, Filipsson H, Janson PO, Thoren M, Hagenfeldt K, Nordskjold A. J Clin Endocrinol Metab. 2010 Aug; 95(8):3633-40


Females with congenital adrenal hyperplasia (CAH) due to a CYP21A2 deficiency are exposed to androgens during fetal development, resulting in virilization of the external genitalia. Little is known about how these women feel that the disease has affected their lives regarding surgery and psychosexual adaptation.
Our objective was to investigate the correlation between the surgical results, the self-perceived severity of the disease, and satisfaction with sexual life and relate the results to the CYP21A2 genotype.
Design and Participants:
Sixty-two Swedish women with CAH and age-matched controls completed a 120-item questionnaire, and a composite score for sexual function was constructed. The surgical outcome, including genital appearance and clitoral sensitivity, was evaluated by clinical examination. The patients were divided into four CYP21A2 genotype groups.
The sexual function score, but not for genital appearance, was higher in the patients satisfied with their sexual life. This was also true of the patients who were satisfied with the surgical result. There were discrepancies between the patients’ perception of the impact of the condition on their sexual life and what health professionals would assume from clinical examination. The patients in the null genotype group scored lower on sexual function and satisfaction with their sexual life and had more surgical complications, also compared with the slightly less severe I2-splice genotype group.
Our data show that the null genotype group was considerably more affected by the condition than the other groups and should be regarded as a subgroup, both psychologically and from a surgical perspective. Genotyping adds clinically valuable information.
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This study underscores the importance of patient subjective experiences and perceptions in assessing the outcomes of medical and surgical management in congenital adrenal hyperplasia (CAH). This paper challenges commonly accepted notions regarding the benefits of genital surgery, in particular early surgery, to maximize sexual satisfaction later in life. The temporally more proximal patient satisfaction with surgery and genital appearance are apparently important predictors of the quality of life that do not necessarily correlate with specific surgical procedures or independent ratings of appearance. This paper gives pause to those who believe that improved genital surgical techniques (independent of patient perceptions and satisfaction) will become the strongest predictor of positive outcomes in disorders of sex development.

The sexual function, activity and experience of women with congenital adrenal hyperplasia (CAH) has been the subject of many studies. Predictors of outcomes have included gene mutation subtypes, prenatal androgenization of the brain as indexed by the degree of genital masculinization observed at birth, and the influence of genital surgery. This study is remarkable for taking into account patient perceptions and satisfaction as predictors of sexual function. The authors divided 62 adult women (ages 18 to 63 years) into groups according to gene mutation severity (null, I2-splice, I172N, and V281L), clitoral surgery procedures performed (no operation, partial clitoral resection, subcutaneous placement of the clitoris, partial resection with subcutaneous placement, or amputation), and vaginal surgery (no operation, cleavage of the urogenital sinus, flap vaginoplasty, or flap vaginoplasty and cleavage in different procedures). The CAH participants were compared to age-matched controls, born the same day and recruited via the Swedish birth registry.

Sexual activity, interest, and orientation varied significantly by CAH genotype and in comparison to controls. The measured size of the clitoris did not significantly differ between groups of CAH women who perceived the size as ‘normal’ or ‘large’. There was variability in clitoral sensitivity to touch according to surgical procedure performed, but patients’ capacity to experience orgasm during intercourse was not significantly correlated with sensitivity to touch. A narrowing of the vagina subsequent to surgery was a common experience. However, sexual function scores were not correlated with the type of vaginal operation nor was sexual orientation correlated with persisting vaginal stenosis.

Genital appearance, as reliably rated by three independent raters, was not found to be related to patients’ comments regarding concerns over genital appearance as an explanation for sexual embarrassment and inhibition. In fact, one patient who reported the greatest distress over her genital appearance received the highest (positive) appearance rating by the raters.

Sexual function, assessed by a standardized questionnaire, was correlated with CAH genotype; the more severe the mutation, the lower the sexual function score. Although trends were observed, sexual function was not correlated with the form of clitoral or vaginal surgery. The genital appearance score did not differ between the women who were satisfied with surgery and those who were not, but sexual function scores were significantly lower for those women who were not satisfied with the results of surgery.

Finally, there was no significant difference between CAH women, as a group, and the controls in terms of satisfaction with their sexual life. Notwithstanding this general finding, women with the null mutation reported dissatisfaction with their sexual life. Within this group, four of six received surgery during the first year of life and none, at the time of the study, were satisfied with their sexual life.

Recommendation Citation:

Sandberg D and Rock J: F1000Prime Recommendation of [Nordenström A et al., J Clin Endocrinol Metab 2010,95(8):3633-40]. In F1000Prime, 02 Jun 2011; DOI: 10.3410/f.10886956.11810054. F1000Prime.com/10886956#eval11810054

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