Long-term outcome of classical 21-hydroxylase deficiency: diagnosis, complications and quality of life

Abstract

A nationwide search of patients with classical 21-hydroxylase deficiency (21-OHD) was performed in Finland to determine the long-term outcome of the disease. In total, 108 patients were found. Fifty-four patients (50%, 31F, 23M) had deficiency of a salt-wasting form and another 54 (50%, 29F, 25M) had a simple virilizing form of 21-OHD. A significant number of severe complications suggestive of glucocorticoid deficiency was found. There were five deaths (4.6% of all) possibly connected with cortisol deficiency. Ten additional patients (9.3% of all) had been acutely admitted 14 times in all due to symptoms of glucocorticoid deficiency. These symptoms included sudden loss of consciousness, convulsions and severe fatigue. Afterwards, permanent neurological defects were detected in two of these patients. Finally, a cross-sectional study was carried out to establish an estimate of the long-term outcome of the disease. Thirty-two (55%) of the 58 patients aged 16 y or more participated in this study. The patient group did not differ from the general Finnish population in terms of education. Three of the patients (5%) had retired prematurely. Surprisingly, the patients felt that their health-related quality of life, as reported in the RAND-36 questionnaire, was better than that of the general Finnish population (p = 0.023). However, as a significant number of all patients did not participate in this study, the quality of life evaluation results must be interpreted with caution. In conclusion, a significant number of complications was found among patients treated for classical 21-OHD. Nevertheless, the disease has a favourable outcome in terms of quality of life.