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Hypoaldosteronism is an endocrinological disorder characterized by decreased levels of the hormone aldosterone. Similarly, isolated hypoaldosteronism is the condition of having lowered aldosterone without corresponding changes in cortisol. [1] (The two hormones are both produced by the adrenals.)
Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism (presenting hyperkalemia). [1] Two major types of primary pseudohypoaldosteronism are recognized and these have major differences in etiology and presentation.
Hypoaldosteronism is a clinical condition marked by either an aldosterone deficiency or impaired tissue-level action of the hormone. Angiotensin I to Angiotensin II conversion, adrenal aldosterone synthesis and secretion, abnormal target tissue response to aldosterone, and renal renin production and secretion are all potential causes of the ...
The genes encoding aldosterone synthase and 11β-hydroxylase are 95% identical and are close together on chromosome 8.In individuals with GRA, there is unequal crossing over so that the 5' regulatory region of the 11-hydroxylase gene is fused to the coding region of the aldosterone synthase.
Pseudohyperaldosteronism (also pseudoaldosteronism) is a medical condition which mimics the effects of elevated aldosterone (hyperaldosteronism) by presenting with high blood pressure, low blood potassium levels (hypokalemia), metabolic alkalosis, and low levels of plasma renin activity (PRA).
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 ...
The targeted long-read sequencing method aims to improve the accuracy of the findings, [125] however, the clinical use of this method is limited. [ 161 ] The cryptic form of (CAH) refers to a condition in which an individual is genetically determined to have the nonclassic variant of CAH but does not display any obvious symptoms.
20,22-Desmolase (P450scc) deficiency: blocks production of all steroid hormones from cholesterol [citation needed]; 3β-Hydroxysteroid dehydrogenase 2 deficiency: impairs progestogen and androgen metabolism; prevents the synthesis of estrogens, glucocorticoids, and mineralocorticoids; causes androgen deficiency in males and androgen excess in females [citation needed]