特征的分子遗传病理患者11 beta-hydroxylase不足。
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却CF, Parajes年代,玫瑰,泰勒AE, Bayraktaroglu T, Wass是的,康奈尔JM, Ray DW Arlt W,克朗N
特征的分子遗传病理患者11 beta-hydroxylase不足。
中国性(Oxf)。2015年11月,83 (5):629 - 35。doi: 10.1111 / cen.12834。Epub 2015年7月14日。
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26053152 (在PubMed]
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目的: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。Nonclassic或轻度11 ohd似乎是一种罕见的疾病。我们的研究评估了剩余的CYP11B1检测到突变的函数,添加温和的光谱11 ohd和说明的可变性11 ohd的临床表现。患者和方法:5名患者出现轻度至中度11 ohd。两个女人呈现轻度多毛症和继发性闭经。在一个案例中两个男人面对早熟pseudopuberty、男子女性型乳房和高血压。一个46,XX女病人被诊断患有男性化的外部生殖器出生后2年。直接进行DNA测序来执行的CYP11B1基因突变分析。CYP11B1基因突变在功能使用体外表达系统的特点。结果:CYP11B1-inactivating突变被发现在所有的病人。 Two novel missense mutations (p.P42L and p.A297V) and the previously characterized p.R143W mutation had residual CYP11B1 activities between 10% and 27%. A novel p.L382R and the previously uncharacterized p.G444D mutation both caused complete loss of CYP11B1 enzymatic activity. CONCLUSION: Mutations causing partial impairment of 11beta-hydroxylase activity (residual activity of 10% or above) are associated with a less severe clinical presentation of 11OHD, which can be classified as a nonclassic form. Our data demonstrate that patients with nonclassic 11OHD can present with androgen excess, precocious pseudopuberty and increased blood pressure. Timely diagnosis of nonclassic 11OHD and consequently initiation of personalized treatment is essential to prevent co-morbidities caused by androgen excess and hypertension.