Endocrine Abstracts

Background: Patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) require lifelong glucocorticoid replacement therapy, including stress dose adjustment to prevent life-threatening adrenal crises (AC). Previous studies indicate a high incidence of inadequate stress dose adjustment and AC in patients with CAH. The aim of this study was to prospectively assess AC incidence, frequency and details of stress dose adjustment as well as knowledge of the disease in adult and paediatric patients with CAH as well as their caregivers.

Methods: A total of 38 children and their caregivers and 162 adults with CAH were included in this prospective, multi-centre study. To collect data on frequency, cause, duration and dosage of dose adjustments and the occurrence of AC, a patient diary was used. In case of AC, additional medical records were reviewed and patient interviews were conducted. Additionally, it was assessed if current sick day rules of the German Society of Endocrinology (DGE) were followed adequately. Knowledge of the disease was assessed using the CAH Knowledge Assessment Questionnaire (CAHKAQ) in the German version.

Results: We found an AC incidence of 8.4 per 100 patient years (py) in 145 adults and 5.1 in 100 py in 29 children. In the adult cohort, a total of 195.4 dose adjustments per 100 py were recorded, in the children cohort a total of 169.7 per 100 py. According to the DGE recommendations, in 24.1% of cases in adult patients dose adjustment was unnecessary and in 33.9% of cases dosage of adjustment was incorrect. A total of 34.8% of dose adjustments in adults were performed correctly. There was a significant positive correlation of the frequency of dose adjustments and the incidence of AC (r=.24, p=.011) and CAHKAQ Score (r=.23, p=.014) in adults. In the children cohort, 4.3% of dose adjustments were unnecessary and in 19.1% of cases dosage of adjustment was incorrect. A total of 72.3% cases of dose adjustments in children were conducted correctly.

Conclusion: Children and adults with CAH show a high incidence of AC and stress dose adjustments. The majority of stress dose adjustments in adults were not in accordance to the recommendations of the DGE, whilst in children the majority of dose adjustments was conducted correctly. These findings underline the need for structured and repeated education of patients to avoid inadequate dose adjustments while preventing AC, with particular focus on the timing of transition.