Congenital adrenal hyperplasia (CAH) represents the most common inborn metabolic error and is associated with significant morbidity and mortality. There is a paucity of clinical data in adult patients, a lack addressed by congenital adrenal hyperplasia adult study executive (CaHASE), a multicentre cross-sectional study of the health status of adults with CAH that recruited 203 patients from 17 centres (54% of patients contacted). Psychometric evaluation was assessed by validated questionnaires including the medical outcomes study 36-item short form (SF-36), 9-item McCoy female sexuality questionnaire (MFQ9-9) and 5-item international index of erectile function (IIEF-5). Completed questionnaires were returned by 155 (78%). SF-36 results were compared to sex- and age-matched controls from the UK SF-36 reference Cohort (n=14 430). Subjective health status was significantly lower in all females and all but one males SF-36 subdomains as compared to the reference cohort were similar to scores observed in congestive heart failure or chronic haemodialysis patients. Comparison to an adrenal insufficiency cohort (n=209) revealed a similar degree and pattern of impairment. Sexuality questionnaires were completed by 92% of males and only 62% of females. The reported level of erectile dysfunction in male CAH patients (n=59, median age 32 years) was comparable to 50- to 60-year-olds. Similarly, the global MFQ9-9 score in female patients (n=83; median age 33 years) was comparable to that reported for postmenopausal women. It is likely that the impaired quality of life in CAH is multifactorial, the patients had significantly higher BMI and shorter final height than the health survey for England 2003 cohort, and 69% of CAH females underwent genital correction surgery. In conclusion, adult patients with CAH have an impaired quality of life (QoL) and reduced sexual functioning. Future analysis will need to address the relationship between QoL in CAH and other factors including previous surgery, metabolic control, body composition and treatment in an attempt to find correctable causes.
CaHASE are grateful to the Society for Endocrinology for the management of the project and The clinical endocrinology trust for their financial support.