Modern Management of Congenital Adrenal Hyperplasia and Prospects for the Future

Abstract

Abstract Congenital adrenal hyperplasia (CAH) refers to a group of genetic cortisol biosynthesis defects, with 21-hydroxylase deficiency (21OHD) being the most common form. The treatment of CAH first involves replacing the deficient hormones of adrenal and sometimes also gonadal origin. In addition, the accumulation of cortisol precursors typically leads to excess androgen and/or mineralocorticoid production. Thus, the second goal is to attenuate the production of unwanted adrenal steroids or to block their action in target tissues. Historically, the two goals were primarily accomplished with glucocorticoid therapy, both to replace the cortisol deficiency and to lower adrenocorticotropin secretion and the production of unwanted steroids. This chapter will review the principles and practical approaches to therapy for patients with CAH, focusing on the adult with 21OHD and their transition from paediatric care. The later sections will review differences in treatment strategies for other forms of CAH and potential novel therapies for the future.