诊断不容错过:nonclassic类固醇11 beta-hydroxylase不足出现过早adrenarche和多毛症。
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Reisch N, Hogler W, Parajes年代,玫瑰,V,迪尔Gotzinger J, Arlt W,克朗N
诊断不容错过:nonclassic类固醇11 beta-hydroxylase不足出现过早adrenarche和多毛症。
中国性金属底座。2013年10月,98 (10):E1620-5。doi: 10.1210 / jc.2013 - 1306。Epub 2013年8月12日。
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23940125 (在PubMed]
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背景:类固醇11 beta-hydroxylase (CYP11B1)缺乏症(11 ohd)是第二个最常见的先天性肾上腺增生。温和nonclassic形式是罕见的和风险无法实现。目的:这项研究的目的是证明在诊断nonclassic 11 ohd的挑战。患者和方法:患者1,一个10岁的男孩,面对为过血压和以前无法解释的夸张adrenarche从4岁。在8岁以前的测试显示正常17-hydroxyprogesterone与雄激素增加浓度。病人2,一个14岁的女性,面对面部多毛症、原发性闭经,为过血压。小说的CYP11B1基因突变在功能上分析了瞬变转染COS7细胞测量转换11-deoxycortisol皮质醇的液体chromatography-tandem质谱分析。结果:生化结果包括尿类固醇代谢物分析,气相色谱-光谱法是11 ohd所有病人的暗示。CYP11B1基因突变分析显示在病人1复合杂合性(g。235 t >, p.F79I / g。2608 c > T, p.R138C)和纯合突变患者2和两个兄弟(g。2623 c > T, p.R143W)。 Functional in vitro analysis demonstrated partially impaired CYP11B1 activity compared with wild-type (p.F79I: 8.8% +/- 0.8% (SEM); p.R138C: 9.8% +/- 0.8%; p.R143W: 10.6% +/- 1.2%). CONCLUSION: In addition to nonclassic 21-hydroxylase deficiency and steroid-secreting tumors, nonclassic 11OHD should be considered as an important differential diagnosis in patients with unexplained hyperandrogenism without 46,XX disorder of sex development. Nonclassic 11OHD is likely to be missed when relying on measuring standard steroid hormone panels. This diagnosis needs to be established early in life to avoid long-term health problems such as short stature, hyperandrogenism-related metabolic complications, potentially severe arterial hypertension, and cardiovascular consequences.