Imperato-McGinley J, Gautier T, Peterson R E, Shackleton C
J Urol. 1986 Oct;136(4):867-73. doi: 10.1016/s0022-5347(17)45108-1.
During a 10-year period 65 children and adolescents with ambiguous genitalia from the Dominican Republic, not known through kindred studies of 5 alpha-reductase deficiency, were evaluated. Plasma androgen determinations were performed before and/or after Leydig cell stimulation of the testes with human chorionic gonadotropin. Of the children there were 24 female pseudohermaphrodites, 21 of whom had 21-hydroxylase deficiency, 1 true hermaphrodite and 40 (62 per cent) male pseudohermaphrodites. One child had a human chorionic gonadotropin response suggestive of 17-20 desmolase deficiency, and on further evaluation he also had partial deficiencies of the enzymes 21-hydroxylase and 17 alpha-hydroxylase. Five subjects had a female phenotype and subnormal androgen responses to human chorionic gonadotropin. In 5 of 33 male pseudohermaphrodites with a normal testosterone response to human chorionic gonadotropin 5 alpha-reductase deficiency was suspected by elevated plasma testosterone/dihydrotestosterone ratios before and/or after human chorionic gonadotropin stimulation. The diagnosis of 5 alpha-reductase deficiency was confirmed by elevated 5 beta/5 alpha urinary C19 and C21 steroid metabolite ratios. One subject with 5 alpha-reductase deficiency was traced to the original Dominican kindred of 38 affected subjects. Pedigree analysis of another proband revealed 3 additional affected relatives. Four subjects with a normal testosterone response to human chorionic gonadotropin had XO/XY gonadal dysgenesis. There were 25 male pseudohermaphrodites with normal plasma testosterone and dihydrotestosterone responses to human chorionic gonadotropin, who were not diagnosed by this methodology. This study reveals that 5 alpha-reductase deficiency occurs with a frequency of 13 per cent as a cause of male pseudohermaphroditism in the Dominican Republic with approximately the same frequency as XO/XY gonadal dysgenesis. Unlike female pseudohermaphrodites, the majority of male subjects with pseudohermaphroditism remain unclassified by these techniques.
在10年期间，对来自多米尼加共和国的65名生殖器模糊的儿童和青少年进行了评估，这些儿童和青少年并非通过5α-还原酶缺乏症的家族研究得知。在用人类绒毛膜促性腺激素刺激睾丸的间质细胞之前和/或之后进行了血浆雄激素测定。在这些儿童中，有24名女性假两性畸形，其中21名患有21-羟化酶缺乏症，1名真两性畸形和40名（62%）男性假两性畸形。1名儿童对人类绒毛膜促性腺激素的反应提示17,20-裂解酶缺乏，进一步评估发现他还存在21-羟化酶和17α-羟化酶的部分缺乏。5名受试者表现为女性表型，对人类绒毛膜促性腺激素的雄激素反应低于正常水平。在33名对人类绒毛膜促性腺激素睾酮反应正常的男性假两性畸形患者中，有5名在人类绒毛膜促性腺激素刺激之前和/或之后血浆睾酮/双氢睾酮比值升高，怀疑存在5α-还原酶缺乏症。5β/5α尿C19和C21类固醇代谢物比值升高证实了5α-还原酶缺乏症的诊断。1名患有5α-还原酶缺乏症的受试者追溯到了最初的38名受影响受试者的多米尼加家族。对另一名先证者的系谱分析发现了另外3名受影响的亲属。4名对人类绒毛膜促性腺激素睾酮反应正常的受试者患有XO/XY性腺发育不全。有25名男性假两性畸形患者血浆睾酮和双氢睾酮对人类绒毛膜促性腺激素的反应正常，用这种方法未诊断出病因。这项研究表明，在多米尼加共和国，5α-还原酶缺乏症作为男性假两性畸形的病因，发生率为13%，与XO/XY性腺发育不全的发生率大致相同。与女性假两性畸形不同，这些技术无法对大多数男性假两性畸形患者进行分类。
