Search results
Results from the WOW.Com Content Network
Aldosterone synthase deficiency; Secondary aldosterone deficiency; Secondary adrenal insufficiency; Diseases of the pituitary or hypothalamus; Hyporeninemic hypoaldosteronism (due to decreased angiotensin 2 production as well as intra-adrenal dysfunction) [4] Renal dysfunction-most commonly diabetic nephropathy; NSAIDs; Ciclosporin
Aldosterone synthase, also called steroid 18-hydroxylase, corticosterone 18-monooxygenase or P450C18, is a steroid hydroxylase cytochrome P450 enzyme involved in the biosynthesis of the mineralocorticoid aldosterone and other steroids. The enzyme catalyzes sequential hydroxylations of the steroid angular methyl group at C18 after initial 11β ...
The most common cause of primary adrenal insufficiency (Addison's disease) overall is autoimmune adrenalitis. [2] The prevalence of Addison's disease ranges from 5 to 221 per million in different countries. [30] In children, congenital adrenal hyperplasia (CAH) is the most common cause of adrenal insufficiency, with an incidence 1 in 14,200 ...
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. [citation needed]
Addison's disease, or primary adrenal insufficiency, is an uncommon chronic illness characterized by insufficient production of cortisol and aldosterone by the adrenal glands. [17] Chronic primary adrenal insufficiency is typically characterized by an extended period of malaise, fatigue, anorexia, weight loss, joint and back pain, and skin ...
This category reflects the organization of International Statistical Classification of Diseases and Related Health Problems, 10th Revision. Generally, diseases outlined within the ICD-10 codes E70-E72 within Chapter IV: Endocrine, nutritional and metabolic diseases should be included in this category.
PHA1 is an heterogeneous disease, which can be caused by mutations in different genes. On one hand, mutations on the gene NR3C2 (coding the mineralocorticoid receptor) cause the synthesis of a non-functional receptor which is unable to bind aldosterone or function correctly. In the kidney, aldosterone plays an important role of regulating ...
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]