Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. [1] [2] It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. [3]

2023年7月17日 · Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the biochemical steps of production of glucocorticoids, mineralocorticoids, or sex steroids from cholesterol by the adrenal glands.

2019年4月16日 · Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that arise from defective steroidogenesis. The production of cortisol in the zona fasciculata of the adrenal cortex occurs in five major enzyme-mediated steps. CAH results from deficiency in any one of these enzymes.

Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders due to single gene defects in the various enzymes required for cortisol biosynthesis. CAH represents a continuous phenotypic spectrum with over 95% of all cases caused by 21-hydroxylase deficiency.

2022年11月3日 · Congenital Adrenal Hyperplasia (CAH) is a term used to describe a group of genetically determined disorders of defective steroidogenesis that result in variable deficiency of the end products cortisol and/or aldosterone and their deleterious, including life-threatening, effects on metabolism and electrolytes with simultaneous diversion to the ...

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a genetic disorder characterized by impaired production of cortisol in the adrenal glands. [1] It is classified as an inherited metabolic disorder.

In children with CAH, the adrenal glands lack certain enzymes needed to process cortisol and aldosterone. In close to 95 percent of cases, the missing enzyme is called 21-hydroxylase. CAH caused by this missing enzyme is called 21-hydroxylase deficiency. There are two forms of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.

2021年9月29日 · Congenital adrenal hyperplasia (CAH) is a group of disorders characterized by enzymatic defects in cortisol biosynthesis. Steroidogenic enzymes can mainly be divided into two groups: cytochrome P450 (CYP) and hydroxysteroid …

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Congenital Adrenal Hyperplasia (CAH, OMIM 201910) describes a group of autosomal recessive disorders characterised by enzyme defects in the steroidogenic pathways involved in the biosynthesis of cortisol, aldosterone and androgens. 21-Hydroxylase (21-OH) is the most common of these enzyme deficiencies being found in up to 95% of cases.