Quality of life (QoL) is significantly impaired in patients with primary and secondary adrenal insufficiency (AI) irrespective of the glucocorticoid dosing regimen or the currently available glucocorticoid preparation. The impairment of QoL has been particularly attributed to the unphysiological mode of glucocorticoid replacement, which only roughly resembles the physiological profile. In both congenital adrenal hyperplasia (CAH) and Addison's disease, failure in cortisol synthesis results in increased pituitary ACTH release. Different from other AI patients, CAH patients suffer from ACTH driven adrenal androgen excess which may result in disordered sex development, virilisation, impaired fertility, and short stature. Furthermore, glucocorticoid doses in CAH are usually higher and replacement regimens are more complex than in isolated AI. This may further impact QoL in CAH.
To date only little data from small studies is available on QoL in patients with CAH with conflicting results. Most studies demonstrate impairment of QoL and psychosexual well being, mainly in women. In an own analysis, patients with 21-hydroxylase deficiency from Germany and the UK were assessed with the SF-36, GBB-24 and HADS questionnaire and compared to patients with primary AI of other origin. German patients with classic 21-hydroxylase deficiency (21-OHD) showed significant impairment in three out of five GBB-24 scores, but neither impaired SF-36 nor HADS scores, whereas scores in UK CAH patients were significantly impaired for most dimensions. Primary AI patients showed impairment in more dimensions of the applied tests compared to German CAH patients. Particularly in women significant differences were observed with better subjective QoL in CAH patients.
This data suggests that QoL in classic 21-OHD is impaired compared to healthy controls but appears to be better than in primary AI. Differences between groups suggest effects unrelated to hormone replacement therapy and furthermore significant influence of quality of patient care on QoL outcome.