Journal
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
Volume 15, Issue 1, Pages 17-41Publisher
BAILLIERE TINDALL
DOI: 10.1053/beem.2000.0117
Keywords
steroid 21-monooxygenase; adrenal hyperplasia; congenital; cytochrome P-450; metabolism; inborn errors; sex differentiation disorders; virilism; hydrocortisone; aldosterone; androgens; HLA antigens
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Funding
- NIDDK NIH HHS [R37DK37 867] Funding Source: Medline
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Congenital adrenal hyperplasia syndromes result from deficiencies of enzymes involved in corticosteroid biosynthesis. Most commonly, they are due to mutations in 21-hydroxylase. This chapter describes the clinical diagnosis and management of congenital adrenal hyperplasias throughout life, including in the fetus, child and adult. These clinical recommendations are explained in the context of the molecular and biochemical characteristics of the diseases.
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