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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 ]
In studies of the common form of congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency, Miller's group discovered the gene for Tenascin-X, overlapping the CYP21A2 gene. [7] They then discovered a contiguous gene syndrome from a deletion encompassing both CYP21A2 and TNX, causing CAH and Ehlers-Danlos syndrome (EDS). [8]
Ethical issues have been raised about New's research. Namely, it has been questioned whether pregnant women undergoing treatment for the possible effects of congenital adrenal hyperplasia on their unborn babies were properly informed concerning the treatments that were administrated to them. [2] In September 2010 the FDA found nothing worth ...
[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 ...
Spironolactone was discovered in 1957, and was introduced in 1959. [29] [30] [31] It is on the World Health Organization's List of Essential Medicines. [32] It is available as a generic medication. [4] In 2022, it was the 52nd most commonly prescribed medication in the United States, with more than 12 million prescriptions.
Two slices of an adrenal gland with a cortical adenoma, from a person with Conn's syndrome. The condition is due to: [14] Bilateral idiopathic (micronodular) adrenal hyperplasia: 66% of cases [1] Adrenal adenoma (Conn's disease): 33% of cases [1] Primary (unilateral) adrenal hyperplasia: 2% of cases
The treatments for benign prostatic hyperplasia include medications, which typically need to be taken for months, Brawley says, or surgery. ... What kind of cancer might be discovered by enlarged ...
Genetic variants in the CYP21A2 gene cause a disturbance in the development of the enzyme, leading to congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Gene conversion events involving the functional gene and the pseudogene account for many cases of steroid 21-hydroxylase deficiency. [64] CAH is an autosomal recessive ...