IMPE Abstracts

Congenital adrenal hyperplasia (CAH) is a group of inherited conditions affecting the cortisol production in the adrenal cortex due to a defect in one of the enzymes involved in the cortisol synthesis. The most common enzymatic defect is 21 hydroxylase deficiency (21OHD) leading to a lack of cortisol and mostly also aldosterone and an overproduction of adrenal androgens due to chronically elevated ACTH production. Patients need lifelong glucocorticoid substitution to replace the lacking glucocorticoids and to lower elevated adrenal androgens by suppressing chronically elevated ACTH levels. Unfortunately, mostly supraphysiological dosages of glucocorticoids are necessary to suppress adrenal androgen production sufficiently. Therefore, the balance between overtreatment and undertreatment is challenging and long-term complications are common such as gonadal dysfunction, cardiovascular and metabolic co-morbidity. In recent years new treatment strategies were introduced and new drugs became available especially for 21OHD patients to address the chronic glucocorticoid overexposure, lack of circadian rhythm in glucocorticoid replacement, and inefficient glucocorticoid delivery with concomitant periods of hyperandrogenism. In this presentation an overview about the current treatment of 21OHD and its limitations will be given and novel treatment strategies especially evaluated for 21OHD patients will be discussed.

Key learning points

Glucocorticoid treatment in children and adolescence with congenital adrenal hyperplasia due to 21 hydroxylase deficiency (21OHD) is age depended and requires careful monitoring of biometrical and biochemical parameters. Current treatment of patients with 21OHD with conventional cortisol is suboptimal leading to periods of over and undertreatment. New treatment strategies with improved glucocorticoid preparations and glucocorticoid administration aim to improve hormonal control with lower dosages of cortisol and thereby minimizing long term complications. New drugs especially developed for the treatment of patients with 21OHD aim to lower chronically elevated ACTH and consequently adrenal androgen production. In the future gene based therapy and cell based therapy may become available to restore the 21 hydroxylase production.