Adult consequences of congenital adrenal hyperplasia.
BACKGROUND
Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency accounts for 95% of all CAH cases and is one the most common inborn metabolic disorders. While consensus and guidelines on therapeutic management in infancy and childhood are available, data regarding the treatment of adults with CAH are scarce. This review highlights the issues that need to be addressed when caring for the adult CAH patient. Issues include glucocorticoid and mineralocorticoid replacement, adrenal crisis, female and male fertility, genetic counselling, prenatal dexamethasone treatment, pregnancy and the odds of long-term morbidity and mortality in these patients.


CONCLUSIONS
Large-scale audit studies are urgently required to help optimise management and long-term outcome of these patients, as are optimisation of glucocorticoid replacement and biochemical monitoring tools. It is very important that the adult CAH patient receive regular monitoring by a multidisciplinary team at the secondary- or tertiary-care level.
Arlt
Wiebke
W
Division of Medical Sciences, University of Birmingham, Birmingham, UK. w.arlt@bham.ac.uk
Krone
Nils
N
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000188:drug therapy / Q000503:physiopathology* / Q000523:psychology; D000309:Adrenal Insufficiency / Q000517:prevention & control; D000328:Adult; D005260:Female; D005298:Fertility; D005817:Genetic Counseling; D005938:Glucocorticoids / Q000627:therapeutic use; D020249:Hormone Replacement Therapy; D006801:Humans; D008297:Male; D008901:Mineralocorticoids / Q000627:therapeutic use; D011247:Pregnancy; D011379:Prognosis; D020018:Sexual Dysfunctions, Psychological / Q000209:etiology
D005938:Glucocorticoids; D008901:Mineralocorticoids