CONGENITAL ADRENAL HYPERPLASIA
CAH includes many autosomal recessive disorders that result in reduced adrenal hormone production of cortisol. In response to these low cortisol levels there is an increase in the pituitary hormone adrenocorticotropin hormone (ACTH). Over time, high ACTH levels lead to enlargement (hyperplasia) of the adrenal gland and an increase in the production of other “male type” hormones that the adrenal gland makes. Two of the CAH disorders cause virilization. 95% of the cases of CAH are due to 21-hydroxylase deficiency. Most cases of 21-hydroxylase deficiency are discovered during childhood, but a small percentage are diagnosed in adulthood. The treatment for all forms of CAH involve glucocorticoids in sufficient amounts to prevent adrenal crisis, while avoiding the complications steroid excess.
The endocrinologists at Inter American Diabetes and Endocrinology help to manage adult patients with these conditions. The goals of therapy are different for adults and children. Therapy in adults is aimed at providing just enough glucorticoid to normalize cortisol replacement and to reduce the excessive secretion of both ACTH and the degree of excessive androgens. These goals can be difficult to achieve without over-treatment which has risks of obesity, bone loss, and other clinical manifestations of Cushing’s syndrome.