OII Australia acknowledges that CAH, especially in its more severe forms, requires medical management in regard to the balancing of adrenal levels, usually throughout the lifetime of the affected individual. Adrenal management applies to both males and females and can be compared with insulin management for diabetics.
However we note the disease model with alarm. If restricted only to the actual health issues relating to adrenal management the model may be tolerable. Attempts to control sexual orientation, reproductive function and stereotypical gender role behaviors in biological females with CAH are not a disease, and are not legitimate medical issues.
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.
As so often is the case the rest of this research is concealed behind a pay-wall. But we can make some pretty astute guesses about the outcomes, based on other research.
One recent Danish study concluded:
In the present study, long-term cosmetic and functional reproductive outcomes of women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency were sub-optimal. Prenatal hormonal and genetic factors may contribute to these outcomes, but better counseling of patients throughout adult life may improve long-term satisfaction. Given the complexity CAH conditions, our findings support international recommendations that specialized multi-disciplinary teams should be involved in the follow-up of these patients, not only during childhood and adolescence, but also during adult life.
And in 2008 another Swedish study found:
“When comparing pregnancy history, significantly fewer women with CAH had ever been pregnant, 16 compared with 41 in the control group. A total of 31 pregnancies were seen among the 62 women with CAH compared with 76 among the 62 women in the control group. Only 25 children were born in the CAH group compared with 54 in the control group”
“The number of term pregnancies among the CAH women was clearly related to the severity of the mutation. In the group with the most severe mutation, there was no term pregnancy, and in the women with the SV and NC mutation, the fertility was almost normal.”
The number of women living in a steady heterosexual relationship was also significantly lower. Thus, among the women with SW [Salt Wasting], 71% and 53%, respectively, were singles when compared with 19% in the SV group. A low interest for getting married and performing the traditional child care role, especially among CAH women with SW [has been noted in previous studies.]