Bone mineral density and skeletal outcomes in congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is an autosomal recessive group of disorders characterized by cortisol deficiency and excessive production of adrenal androgens due to impaired cortisol synthesis. Cortisol deficiency usually requires life-long therapy with glucocorticoids (GCs). In other disease states, chronic GC therapy has been associated with decreased bone mineral density (BMD) and osteoporosis. However, BMD data in individuals with CAH are conflicting. In this chapter, we review the effects of GCs and sex steroids on bone metabolism and discuss the data available to-date regarding skeletal outcomes in individuals with CAH.