The 5 alpha-reductase isozyme family: a review of basic biology and their role in human diseases.

The 5 alpha-reductase isozyme family: a review of basic biology and their role in human diseases.
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DOI:
10.1155/2012/530121
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发表时间:
2012
影响因子:
1.4
通讯作者:
Mohler J
Mohler J
中科院分区:
其他
文献类型:
--
作者:
Azzouni F;Godoy A;Li Y;Mohler J

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尽管在1951年发现了5 α-还原作为类固醇代谢中的酶促步骤,并且在1968年发现了双氢睾酮比睾酮更有效,但直到1974年发现5 α-还原酶2型缺乏症,才认识到5 α-还原类固醇在人类疾病中的重要性。受影响的男性出生时具有模糊的外生殖器,尽管正常的内生殖器。前列腺发育不全,直肠检查不可触及,大小约为年龄匹配的正常腺体的1/10。良性前列腺增生或前列腺癌不会在这些患者中发展。到了青春期,外生殖器的部分男性化,然而,第二性毛仍然稀疏,男性型脱发和痤疮很少发展。已经开发了几种化合物来抑制5 α-还原酶同工酶,并且它们在许多常见疾病的预防和治疗中发挥重要作用。本文综述了5 α-还原酶同工酶家族的基本生化特性、功能、组织分布、染色体定位及临床意义。
Despite the discovery of 5 alpha-reduction as an enzymatic step in steroid metabolism in 1951, and the discovery that dihydrotestosterone is more potent than testosterone in 1968, the significance of 5 alpha-reduced steroids in human diseases was not appreciated until the discovery of 5 alpha-reductase type 2 deficiency in 1974. Affected males are born with ambiguous external genitalia, despite normal internal genitalia. The prostate is hypoplastic, nonpalpable on rectal examination and approximately 1/10th the size of age-matched normal glands. Benign prostate hyperplasia or prostate cancer does not develop in these patients. At puberty, the external genitalia virilize partially, however, secondary sexual hair remains sparse and male pattern baldness and acne develop rarely. Several compounds have been developed to inhibit the 5 alpha-reductase isozymes and they play an important role in the prevention and treatment of many common diseases. This review describes the basic biochemical properties, functions, tissue distribution, chromosomal location, and clinical significance of the 5 alpha-reductase isozyme family.