The adult with CAH: results of the UK congenital adrenal hyperplasia, adult study executive (CaHASE)
R J Ross, D S Willis, S H Wild, N Krone, E J Doherty, T S Han, P V Carroll, G S Conway, D A Rees, R H Stimson, B R Walker, J C Connell & W Arlt
Background: No treatment guidelines exist for CAH adults. To address this we have undertaken a cross-sectional analysis of health status.
Patients and methods: Three hundred and eighty patients from 17 tertiary centres were contacted: 203 (53%) consented (138 f, 65 m, median age 34 (range 1869) years). One hundred and sixty-five had classic and 34 non-classic CAH. The UK prevalence is 3591 adults >18 years therefore the capture rate was 5.7%. Results were compared to Health Survey for England (HSE) data.
Results: Glucocorticoids (GC) consisted of hydrocortisone (25%), prednisolone (44%), dexamethasone (19%), cortisone acetate (0.5%) or combination (10%); 1.5% received none and 42% a reverse circadian regimen. Seventy-six percent classic and 11% of non-classic received fludrocortisone; PRA was suppressed in 14% and increased in 48%. Compared to HSE, patients were shorter (P<0.0001), women had higher BMI (P<0.001) and waist circumferences (P<0.001). Diastolic BP was increased in classic women (P<0.0002). Forty-one percent were obese, 37% overweight and 10% had metabolic syndrome. In 46% cholesterol was >5 mmol/l, 39% LDL >3 mmol/l and 29% had impaired insulin sensitivity. Osteopaenia was present in 40%, and osteoporosis in 7%. Women, 64% had genital reconstruction (23%, in adulthood), 17 were assigned male gender at birth, and two live as 46,XX males. Forty-five percent of premenopausal females had oligo/amenorrhoea; 47 sought pregnancy and 28 reported 46 live births. Men: 25 sought fertility and 67% of these reported 25 live births. TARTs were found in 11 of 16 patients and 4 had undergone gonadectomy. QOL: SF-36 revealed impairment in all domains (P<0.001), anxiety and depression was increased (HADS, P<0.001 and P<0.03, respectively). Male erectile dysfunction was similar to 60-year-old and female sexuality scores (MFQ11-9) similar to postmenopausal women.
Conclusions: Only a minority of adult patients are under specialist care and in those investigated, health status is poor. Improvement in the management of adults with CAH is required.
CaHASE are grateful to the Society for Endocrinology for the management of the project and The Clinical Endocrinology Trust for their financial support.