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Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

  • Chapter
Advances in Human Genetics

Part of the book series: Advances in Human Genetics ((AHUG,volume 20))

Abstract

The adrenal cortex produces three principal categories of steroid hormones that regulate a wide variety of physiologic processes from fetal to adult life. Mineralocorticoids, principally aldosterone, regulate renal sodium retention and thus profoundly influence electrolyte balance, intravascular volume, and blood pressure. Glucocorticoids, principally Cortisol, are named for their carbohydrate-mobilizing activity, but are ubiquitous physiologic regulators influencing a wide variety of bodily functions. Adrenal androgens serve no essential physiologic role, but do mediate some secondary sexual characteristics in females, and their overproduction may result in virilism. These biologically active steroids are synthesized from cholesterol by the complex series of enzymatic conversions summarized in Fig. 1. The molecular biology of steroid hormone synthesis has been reviewed in detail recently (Miller, 1988a; Strauss and Miller, 1990), and thus is only outlined briefly here. Genetic disorders exist for each of the steps in steroid hormone synthesis. To understand the phenotypic, clinical manifestations of each of these disorders it is important to understand the steroidogenic pathways and the enzymes that mediate steroid hormone synthesis.

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Authors and Affiliations

  1. INSERM Unit 329 and Department of Pediatrics, Université de Lyon and Hôpital Debrousse, Lyon Cedex 05, France

    Yves Morel

  2. Department of Pediatrics and the Metabolic Research Unit, University of California, San Francisco, 94143-0978, San Francisco, California, USA

    Walter L. Miller

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  1. Yves Morel
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Editors and Affiliations

  1. University of Pennsylvania, Philadelphia, USA

    Harry Harris (Harnwell Professor of Human Genetics) (Harnwell Professor of Human Genetics)

  2. Mount Sinai School of Medicine of The City University of New York, USA

    Kurt Hirschhorn (Herbert H. Lehman Professor and Chairman of Pediatrics) (Herbert H. Lehman Professor and Chairman of Pediatrics)

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© 1991 Plenum Press, New York

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Morel, Y., Miller, W.L. (1991). Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 20. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5958-6_1

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  • DOI: https://doi.org/10.1007/978-1-4684-5958-6_1

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