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单纯性腺发育不全和睾丸女性化的XY女性病例已有大量报导,具有酶缺陷阻碍雄激素和雌激素合成的XY女性病例的报导相对较少。最近作者发现一例17α-羟化酶缺陷的XY女性患者,促使作者复习关于具有酶缺陷的XY女性患者的文献。检查胆固醇代谢(图1)发现20,22-碳链酶,3β-羟类固醇脱氢酶、17α-羟化酶、17,20-碳链酶和17β-还原酶中任何一种酶缺乏都将阻碍睾丸酮和雌二醇的合成。
XY female cases of simple gonadal dysgenesis and testicular feminization have been extensively reported, and relatively few cases of XY women with enzyme defects that block androgen and estrogen synthesis are reported. A recent case of XY female patients with 17α-hydroxylase deficiency prompted the authors to review the literature on XY female patients with enzyme deficiency. Examination of the cholesterol metabolism (Figure 1) revealed that any enzyme deficiency of 20,22-carbon chain enzyme, 3beta-hydroxysteroid dehydrogenase, 17alpha-hydroxylase, 17,20-carbon chain enzyme and 17beta-reductase Hinder testosterone and estradiol synthesis.