Frequency and causes of adrenal crises over life-time in patients with 21-hydroxylase deficiency
N. Reisch1, M. Willige1, D. Kohn2, H. Schwarz3, B. Allolio4, M. Reincke1, M. Quinkler4, S. Hahner4 & F. Beuschlein1
Background: Adrenal crisis (AC) is a life-threatening complication in patients with congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency (21-OHD). AC was defined as an acute state of health impairment which required i.v. glucocorticoid administration and hospital admission. No data on AC over life-time in 21-OHD is available.
Study design: In a retrospective study AC was studied following two approaches: a) questionnaire-based: 122 adult 21-OHD patients (50 men, 72 women, median age 35 years, range 1869) completed a disease-specific questionnaire, b) patient chart based: charts of 67 21-OHD patients (32 males, 35 females, median age 31 years, range 2066) were analyzed from diagnosis to last follow-up with regard to frequency and causes of AC since diagnosis.
Results: Evaluation of questionnaires revealed 257 AC in 4456 patient years (frequency 5.8 crises/100 patient years), while patient charts documented 106 AC in 2181 patient years (4.9 crises/100 patient years). The chart-based evaluation showed that gastrointestinal infections (29%) and salt-wasting crisis (18%) were the main causes of AC. In 14% the cause remained uncertain. There was no difference in the overall frequency of AC in males and females. AC mostly occurred during childhood, with more than 70% of AC in the first 10 years of life and one third of AC in the first year of life. Still 20% of cases of AC were observed in adults (>18 years).
Conclusion: Our longitudinal analysis demonstrates a significant risk of AC in patients with 21-OHD over life-time. Specific age-adapted and repeated crisis prevention training may help to reduce morbidity due to AC in 21-OHD.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This work was supported, however funding details unavailable.