Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition which leads to glucocorticoid deficiency. During childhood, aims of treatment are to prevent adrenal crisis and to achieve optimal adult height and normal puberty. In adults, aims of treatment are to prevent adrenal crisis, ensure normal fertility and avoid long-term consequences of glucocorticoid use. Current regimens with glucocorticoids cannot optimally replicate the normal physiological cortisol level. Overtreatment or undertreatment is often reported and there is no current standard treatment for CAH. It remains unclear which treatment regimen is most effective.

Objective: This Cochrane review (protocol published) aims to determine the efficacy of different glucocorticoid replacement regimens of CAH.

Methods: We included any RCT or quasiRCT comparing different glucocorticoid replacement regimens in the treatment of CAH due to 21-hydroxylase deficiency in children and adults. GRADE was used to assess quality of the evidence.

Results: The initial search identified 297 records which identified 20 publications for further examination. After screening, we included five RCTs with 101 people with CAH. The number of participants in each trial varied from 6 to 44 with participants’ ages ranging from 1.2 to 21 years. The majority of the trials we included were small and many had methodological weaknesses. The number of trials assessing different glucocorticoid regimens varied as well as the trial durations. Although 17OHP and androstenedione are frequently used to monitor treatment, there is a great amount of variability in the measurements. Overall, we judged trials to be moderate to high risk of bias across many domains.

Conclusions: There is insufficient evidence to indicate which glucocorticoid replacement regimen results in better outcomes. There were no trials on modified-release formulation of hydrocortisone or use of 24-hour circadian continuous subcutaneous infusion of hydrocortisone. This review identified the need for well-designed, adequately-powered trials to assess the efficacy of different glucocorticoid replacement regimens in the treatment of CAH.