title: Long-term consequences of childhood-onset congenital adrenal hyperplasia.
abstract: Congenital adrenal hyperplasia (CAH) is a general term applied to several diseases caused by inherited defects of cortisol synthesis. The most common of these is steroid 21-mono-oxygenase (also termed 21-hydroxylase) deficiency (CAH-21OHD), found in approximately 1:10 000-1:15 000 live births. Potentially lethal adrenal insufficiency is characteristic of about two-thirds to three-quarters of patients with the classic salt-wasting form of CAH-21OHD. Non-salt-wasting forms of CAH-21OHD may be diagnosed based in part on genital ambiguity in affected newborn females, and/or by later evidence of androgen excess in members of either sex. Non-classical CAH-21OHD may be detected in up to 1-3% of certain populations, and is often mistaken for idiopathic precocious pubarche in children or polycystic ovary syndrome in young women. This chapter addresses issues relating to long-term consequences in adult life of CAH-21OHD diagnosed in early childhood or adolescence.
authors.affiliation: Division of Pediatric Endocrinology and Professor of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.
authors.forename: Perrin C
authors.initials: PC
authors.lastname: White
authors.forename: Phyllis W
authors.initials: PW
authors.lastname: Speiser
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D002648:Child; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use; D006128:Growth; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D012098:Reproduction
chemical_list: D005938:Glucocorticoids; D006854:Hydrocortisone