Congenital adrenal hyperplasia

Abstract

Of the six known types of congenital adrenal hyperplasia (CAH), 11 β(beta)- hydroxylase de fi ciency and 17 α(alpha)-hydroxylase de fi ciency are distinct in that patients suffer from hypertension. Impaired cortisol synthesis results in ACTH driven mineralocorticoid excess in both disorders. Interestingly, the mineralocorticoid hormones that are responsible for the development of hypertension in 11 β(beta)-hydroxylase deficiency and 17 α(alpha)-hydroxylase de fi ciency are not identical. In addition, the degree of blood pressure elevation does not directly correlate with known mineralocorticoid hormone levels suggesting that unknown factors may contribute to the development of hypertension in these forms of CAH. Hypertension is not pathognomonic of CAH due to 21-hydroxylase de fi ciency, but patients with the classic form of the disease have been found to commonly have blood pressure elevation in some studies. Several contributing factors have been proposed including an association with glucocorticoid and mineralocorticoid treatment regimens and obesity. Treatment of hypertension in patients with 11 β(beta)-hydroxylase deficiency and 17 α(alpha)-hydroxylase de fi ciency is most successful if the disorder is diagnosed early and glucocorticoid therapy is started early in life. A mineralocorticoid receptor antagonist is an excellent therapeutic option if glucocorticoid replacement does not resolve the hypertension. For patients with 21-hydroxylase de fi ciency, one class of anti-hypertensive treatment has not been identi fi ed as standard of care as the pathophysiology of the hypertension is unclear. Treatment with an anti-hypertensive medication that will not interfere with volume status is preferred. Patients with CAH due to 11 β(beta)-hydroxylase de fi ciency, 17 α(alpha)- hydroxylase de fi ciency, and 21-hydroxylase de fi ciency are at risk for hypertension, a major risk factor for cardiovascular disease. Careful screening for hypertension, and early pharmacologic therapy should be implemented. The interplay between hormonal imbalances and the development of hypertension requires further study. Future longitudinal studies to assess cardiovascular events, morbidity, and mortality are needed and will lead to improved therapeutic strategies.