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Management of the Adult with Congenital Adrenal Hyperplasia

DOI: 10.1155/2010/614107

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Abstract:

As discussed elsewhere, the congenital adrenal hyperplasias (CAHs) are genetic defects in cortisol biosynthesis. Low cortisol removes feedback inhibition of adrenocorticotropin (ACTH) secretion, which causes adrenal hyperplasia. The clinical consequences of CAH derive from both the shunting of cortisol precursors along other pathways and the biological activities of these precursors and their unusual metabolites, which accumulate above the block. Treatments will ideally replace the glucocorticoid deficiency and normalize both mineralocorticoid and androgen biosynthesis without inducing untoward effects from the drugs themselves. The most common cause of CAH is 21-hydroxylase deficiency (21-OHD) [1], which afflicts about 1?:?15,000 live births [2]. Since the introduction of cortisone therapy by Wilkins et al. in the early 1950s [3], these children have been able to survive into adulthood. Now that over a half century has passed, one would think that abundant information would have accumulated on the care of adults with CAH, as is now the case for children [4]. Regrettably, very little is known about the physiology and management of adults with CAH, and what is known is essentially limited to 21-OHD.Genetic disorders, which manifest with congenital disease, are largely the providence of pediatrics. With the completion of the Human Genome Project, internists have become more aware of genetic disorders, but largely the focus has been on susceptibility genes for cancer, diabetes, and cardiovascular diseases. Training in the care of patients with congenital biosynthetic defects, such as glycogen storage diseases and CAH, is generally not considered an important component of internal medicine residencies and endocrinology fellowships.Consequently, few doctors who care for adults, even those at academic medical centers, are adequately trained or interested in rare genetic diseases. This scenario is evidently the case for CAH. Most internal medicine endocrinology trainees wi

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