Sexuality, body image and quality of life in patients with 21-hydroxylase deficiency

Research Question: There has been little empirical research exploring the restrictions subjectively experienced by patients with congenital adrenal hyperplasia (CAH) due to 21-OH deficiency. We have examined the extent to which the quality of life, depressive states, body image and sexual well-being have been altered in these patients.

Material and Methods: We examined 31 adult female patients with CAH (34±10 years, 75% salt loosing, 23% simple virilizing). Most of them were diagnosed within their first year of life. 50% had undergone surgery before they were three years old. Patients were asked to fill out validated questionnaires which assess Quality of life (SF12), anxiety and depression (HADS), body image (FKKS) and sexual behavior. Various samples from the general population served as comparison, as well as a sample of 90 acromegaly and 55 Addison patients.

Results: 74% of the patients are sexually active (62% hetero-, 31% bi-, 7% homosexual). 50% can experience regular orgasms, 10% have children. We found that the quality of life of CAH patients was significantly lower with respect to perceived restrictions in physical and psychological health (SF12) than found in the samples from the healthy population. However, compared to patients with Addison, patients with CAH scored similar in both SF12 scales and report similar levels of depressive and anxious mood (HADS). The most serious subjectively-experienced restriction can be found in the patient's body image, which is altered more extensively than in patients with acromegaly (4 of the 8 FKKS scales). The perceived sexual attractiveness is diminished in all three endocrinology disorders to a similar extent. None of the mentioned scales covary with the type and extent of pharmacological treatment or surgery.

Conclusions: In spite of good metabolic regulation, patients with CAH report considerable restrictions in quality of life. Their body image is altered even more than in other endocrinological disorders, allowing us to assume that psychotherapeutic accompaniment of some kind would be helpful for these patients.