THE SYNDROME OF 5-ALPHA-REDUCTASE DEFICIENCY
THE SYNDROME OF 5-ALPHA-REDUCTASE DEFICIENCY
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DOI：
10.1097/00019616-199407000-00009
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发表时间：
1994-07-01
期刊：
影响因子：
--
通讯作者：
IMPERATOMCGINLEY, J
中科院分区：
文献类型：
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作者：
FRATIANNI, CM;IMPERATOMCGINLEY, J
类固醇5α-还原酶将睾酮转化为更有效的雄激素二氢睾酮。这种酶的遗传性缺乏会导致双氢睾酮(DHT)的缺乏和5α-还原酶缺乏的临床症状。该综合征的特征是男性假两性畸形。受影响的男性在出生时有假性阴道、会阴阴囊下裂和生殖器不清。许多人是在女孩时期长大的；然而，在青春期，随着声音的加深、的增大、阴囊的过度色素沉着和肌肉质量的增加，男性会变得男性化。在许多受影响的个体中，性别角色和性别认同的变化在这个时候经常发生，这种现象在多米尼加和新几内亚家族中有详细的表现。受影响的成年受试者有小的，摸不到的前列腺，面部毛发减少，没有男性模式秃顶的证据，证明了这些现象的DHT依赖性。本文介绍了5α-还原酶缺乏症的诊断标准和生化特征。这种疾病的遗传方式已被清楚地证明为常染色体隐性遗传，并讨论了携带者的检测，包括生化和遗传。最近，该酶的两种亚型--5α-还原酶1和5α-还原酶2及其相应的基因已被鉴定。临床综合征5α-还原酶缺乏症是由于5α-还原酶2基因缺陷引起的。回顾了在多米尼加和新几内亚血统中发现的特定突变。讨论了男性假两性畸形的内科治疗和会阴阴囊下裂手术矫正的相关问题。讨论了5α-还原酶抑制在治疗良性前列腺增生症中的应用，以及治疗伴型脱发、多毛症和痤疮的可能方法。
The enzyme steroid 5alpha-reductase converts testosterone to the more potent androgen dihydrotestosterone. An inherited deficiency of the enzyme results in a deficiency of dihydrotestosterone (DHT) and the clinical syndrome of 5alpha-reductase deficiency. The syndrome is characterized by male pseudohermaphroditism. Affected males have pseudovaginal perineoscrotal hypospadias and ambiguous genitalia at birth. Many are raised as girls; however, at puberty there is virilization, with deepening of the voice, enlargement of the phallus, hyperpigmentation of the scrotum and increased muscle mass. A change in gender role and gender identity frequently occurs at this time in many affected individuals, and this phenomenon is detailed in the Dominican and the New Guinean kindreds. Affected adult subjects have small, nonpalpable prostates, decreased facial hair and no evidence of male pattern baldness, attesting to the DHT dependency of these phenomena. The diagnostic criteria and characteristic biochemical profile of 5alpha-reductase deficiency are described. The mode of inheritance of the condition has been clearly demonstrated to be autosomal recessive, and carrier detection, both biochemical and genetic, is discussed. Recently two isoforms of the enzyme, 5alpha-reductase 1 and 5alpha-reductase 2, and their corresponding genes have been characterized. The clinical syndrome of 5alpha-reductase deficiency (5alphaRD) is due to a defect in the 5alpha-reductase 2 gene. The specific mutations found in the Dominican and New Guinean kindreds are reviewed. Medical therapy for male pseudohermaphroditism and issues related to surgical correction of the perineoscrotal hypospadias are discussed. The use of 5alpha-reductase inhibition as therapy for benign prostatic hyperplasia and possible therapy for mate pattern baldness, hirsutism and acne are discussed.