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  2. Congenital adrenal hyperplasia - Wikipedia

    en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia

    The defects causing adrenal hyperplasia are congenital (i.e. present at birth). Steroidogenesis : The enzymes affected in CAH are represented by one red and four green bars on the top half of the diagram (for example, "21α-hydroxylase" is visible near the top center. "17α-hydroxylase" and "17,20 lyase" are carried out by a single enzyme). [ 29 ]

  3. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

    en.wikipedia.org/wiki/Congenital_adrenal...

    [2] [3] Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in all its forms accounts for over 95% of diagnosed cases of all types of congenital adrenal hyperplasia. [4] Unless another specific enzyme is mentioned, CAH in most contexts refers to 21-hydroxylase deficiency, and different mutations related to enzyme impairment have ...

  4. Disorders of sex development - Wikipedia

    en.wikipedia.org/wiki/Disorders_of_sex_development

    Lipoid congenital adrenal hyperplasia – an endocrine disorder that arises from defects in the earliest stages of steroid hormone synthesis: the transport of cholesterol into the mitochondria and the conversion of cholesterol to pregnenolone—the first step in the synthesis of all steroid hormones. [50] [51]

  5. Adrenal insufficiency - Wikipedia

    en.wikipedia.org/wiki/Adrenal_insufficiency

    Of the synthesis problems, congenital adrenal hyperplasia is the most common (in various forms: 21-hydroxylase, 17α-hydroxylase, 11β-hydroxylase and 3β-hydroxysteroid dehydrogenase), lipoid CAH due to deficiency of StAR and mitochondrial DNA mutations. [19]

  6. Adrenal gland disorder - Wikipedia

    en.wikipedia.org/wiki/Adrenal_gland_disorder

    Congenital adrenal hyperplasia is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. [23] [24] It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. [25]

  7. Pseudohyperaldosteronism - Wikipedia

    en.wikipedia.org/wiki/Pseudohyperaldosteronism

    Congenital adrenal hyperplasia is an autosomal recessive disorder with multiple types, two of which lead to pseudohyperaldosteronism. [1] Deficiency of 11-beta-hydroxylase blocks the conversion of 11-deoxycorticosterone (DOC) to corticosterone leading to an excess of DOC which acts as a mineralocorticoid similar to aldosterone.

  8. Congenital adrenal hyperplasia due to 11β-hydroxylase ...

    en.wikipedia.org/wiki/Congenital_adrenal...

    Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal amount of androgen, [1] resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase (11β-OH) which mediates the final step of cortisol synthesis in the adrenal. 11β-OH CAH results in hypertension due to excessive ...

  9. Hyperandrogenism - Wikipedia

    en.wikipedia.org/wiki/Hyperandrogenism

    Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders that cause a lack of an enzyme necessary for the production of cortisol and/or aldosterone, steroid hormones produced by the adrenal cortex. Most cases of CAH are due to 21-hydroxylase deficiencies.