Much of our modern understanding and treatment of CAH comes from research conducted at Johns Hopkins Medical School in Baltimore in the middle of the 20th century. Lawson Wilkins , "founder" of pediatric endocrinology , worked out the apparently paradoxical pathophysiology: that hyperplasia and overproduction of adrenal androgens resulted from impaired capacity for making cortisol. He reported use of adrenal cortical extracts to treat children with CAH in 1950. Genital reconstructive surgery was also pioneered at Hopkins. After application of karyotyping to CAH and other intersex disorders in the 1950s, John Money , JL Hampson, and JG Hampson persuaded both the scientific community and the public that sex assignment should not be based on any single biological criterion, and gender identity was largely learned and has no simple relationship with chromosomes or hormones. See Intersex for a fuller history, including recent controversies over reconstructive surgery.
Patients with congenital adrenal hyperplasia usually have to take lifelong steroid medication. Current treatments try to mimic normal biology as much as possible, but are not perfect. The evidence suggests that if well treated during childhood, most patients with congenital adrenal hyperplasia will reach a normal adult height but probably be a little shorter than would have been predicted if they did not have the disorder. Fertility is reduced in some patients but there are an increasing number of options for helping patients achieve fertility. Reconstruction genital surgery might be required in older girls with ambiguous genitalia. Maintaining the right balance of steroids is important during adult life to avoid the complications of osteoporosis , obesity and hypertension.