Congenital adrenal hyperplasia

Robert C. Wilson; Maria I. New

doi:10.1007/978-1-59259-963-9_37

Congenital adrenal hyperplasia

Robert C. Wilson, Maria I. New

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

2 Scopus citations

Abstract

Congenital adrenal hyperplasia is a family of autosomal-recessive disorders caused by mutations that encode for enzymes involved in one of the various steps of adrenal steroid synthesis. This chapter discusses adrenal steroidogenesis, 21-hyroxylase deficiency, 11 β-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, 17α hydroxylase/17,20- lyase deficiency, lipoid congenital adrenal hyperplasia, and various treatments.

Original language	English
Title of host publication	Principles of Molecular Medicine
Publisher	Humana Press
Pages	365-376
Number of pages	12
ISBN (Print)	9781588292025
DOIs	https://doi.org/10.1007/978-1-59259-963-9_37
State	Published - 2006

Keywords

17α hydroxylase/17
20-lyase deficiency
21-hydroxylase deficiency (21-OHD)
3β-hydroxysteroid dehydrogenase deficiency
Adrenal steroidogenesis
adrenal hyperplasia
congenital adrenal
hyperplasia (CAH)
lipoid congenital
salt wasting

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10.1007/978-1-59259-963-9_37

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title = "Congenital adrenal hyperplasia",

abstract = "Congenital adrenal hyperplasia is a family of autosomal-recessive disorders caused by mutations that encode for enzymes involved in one of the various steps of adrenal steroid synthesis. This chapter discusses adrenal steroidogenesis, 21-hyroxylase deficiency, 11 β-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, 17α hydroxylase/17,20- lyase deficiency, lipoid congenital adrenal hyperplasia, and various treatments.",

keywords = "17α hydroxylase/17, 20-lyase deficiency, 21-hydroxylase deficiency (21-OHD), 3β-hydroxysteroid dehydrogenase deficiency, Adrenal steroidogenesis, adrenal hyperplasia, congenital adrenal, hyperplasia (CAH), lipoid congenital, salt wasting",

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AU - New, Maria I.

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AB - Congenital adrenal hyperplasia is a family of autosomal-recessive disorders caused by mutations that encode for enzymes involved in one of the various steps of adrenal steroid synthesis. This chapter discusses adrenal steroidogenesis, 21-hyroxylase deficiency, 11 β-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, 17α hydroxylase/17,20- lyase deficiency, lipoid congenital adrenal hyperplasia, and various treatments.

KW - 17α hydroxylase/17

KW - 20-lyase deficiency

KW - 21-hydroxylase deficiency (21-OHD)

KW - 3β-hydroxysteroid dehydrogenase deficiency

KW - Adrenal steroidogenesis

KW - adrenal hyperplasia

KW - congenital adrenal

KW - hyperplasia (CAH)

KW - lipoid congenital

KW - salt wasting

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SN - 9781588292025

SP - 365

EP - 376

BT - Principles of Molecular Medicine

PB - Humana Press

ER -

Congenital adrenal hyperplasia

Abstract

Keywords

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