Congenital adrenal hyperplasias.
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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Division of Pediatric Endocrinology, UT Southwestern Medical Center, Dallas, TX 75235-9063, USA.
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D008967:Molecular Biology; D009154:Mutation