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5α-Reductase 2 deficiency (5αR2D) is an autosomal recessive condition caused by a mutation in SRD5A2, a gene encoding the enzyme 5α-reductase type 2 (5αR2). People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have testes .
5α-Reductase type 1 inactivated male mice have reduced bone mass and forelimb muscle grip strength, which has been proposed to be due to lack of 5α-reductase type 1 expression in bone and muscle. [29] In 5 alpha reductase type 2 deficient males, the type 1 isoenzyme is thought to be responsible for their virilization at puberty. [6]
The human gene SRD5A2 encodes the 3-oxo-5α-steroid 4-dehydrogenase 2 enzyme, also known as 5α-reductase type 2 (5αR2), [5] [6] one of three isozymes of 5α-reductase. 5αR2 catalyzes the conversion of the male sex hormone testosterone into the more potent androgen , dihydrotestosterone .
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A 5-alpha-reductase deficiency results in atypical development characterized by female phenotype or undervirilized male phenotype with development of the epididymis, vas deferens, seminal vesicle, and ejaculatory duct, but also a pseudovagina. This is because testosterone is converted to the more potent DHT by 5-alpha reductase.
This is a list of 5α-reductase inhibitors (5α-RIs), drugs which inhibit one or more isoforms of the enzyme 5α-reductase.This enzyme is responsible for the conversion of the androgen hormone testosterone into the more potent dihydrotestosterone (DHT) and is essential for the production of neurosteroids like allopregnanolone, tetrahydrodeoxycorticosterone (THDOC), and 3α-androstanediol from ...
A small risk of gynecomastia has been associated with 5α-reductase inhibitors (1.2–3.5%). [36] [41] Based on reports of 5α-reductase type 2 deficiency in males and the effectiveness of 5α-reductase inhibitors for hirsutism in women, reduced body and/or facial hair growth is a likely potential side effect of these drugs in men.
The first compounds developed were selective 5-alpha reductase type 1 inhibitors, but the most potent one inhibits both type 1 and 2. The fluorine atom is an important part of the structure. [8] Benzo(f)quinolonone are also tricyclic compounds, but derivatives of the 4-azasteroid structure.