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首页> 外文期刊>Endocrine >Metabolic disorders in newly diagnosed young adult female patients with simple virilizing 21-hydroxylase deficiency
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Metabolic disorders in newly diagnosed young adult female patients with simple virilizing 21-hydroxylase deficiency

机译：新诊断的年轻男性成年女性单纯性21-羟化酶缺乏症的代谢紊乱

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摘要

Classical congenital adrenal hyperplasia (CAH) is characterized by the defects in cortisol and aldosterone secretion, and accompanied with adrenal hyperandrogenism. It is likely that the impaired adrenocortical function and intermittent treatment-related hypercortisolism may predispose patients to the development of metabolic syndrome in adulthood. Our aim was to assess the impact of hyperandrogenism on metabolic profiles in CAH women without glucocorticosteroid treatment. We evaluated the clinical characteristics and metabolic profiles in 30 untreated Chinese female adults with simple virilizing congenital adrenal hyperplasia (SV–CAH). Mutation analysis was performed by sequencing the entire 21-hydroxylase gene (CYP21A2). As compared with the controls, CAH patients had higher BMI (BMI, 21.5 ± 2.1 vs. 20.0 ± 1.8 kg/m2, P 0.05), higher 2 h post-load plasma glucose levels (6. 35 ± 1.74 vs. 5. 35 ± 1.17 mmol/l, P 0.05), higher serum triglycerides (TG) (1.12 ± 0.64 vs. 0.63 ± 0.15 mmol/l, P 0.01), and lower high-density lipoprotein cholesterol (HDL-c) (1.30 ± 0.39 vs. 1.67 ± 0.29 mmol/l, P 0.01). Moreover, CAH patients had higher fasting insulin and homeostasis model assessment of insulin resistance (HOMA-IR) (1.81 ± 0.99 vs. 1.24 ± 0.50, P 0.05), while ΔIns30/ΔGlu30 showed no statistically significant difference in two groups. In addition, a marked reduction of serum adiponectin levels were observed in CAH patients (7.0 ± 3.3 vs. 13.2 ± 4.8 μg/ml, P 0.001), however, serum CRP levels were not different between patients and the controls. Further regression analysis showed that higher serum testosterone concentrations were associated with metabolic disorder indexes and reduction of serum adiponectin. Our study demonstrates that untreated CAH patients are prone to have metabolic disorders in association with elevated serum testosterone levels and reduced insulin insensitivity.
机译：经典的先天性肾上腺皮质增生（CAH）的特征在于皮质醇和醛固酮分泌缺陷，并伴有肾上腺雄激素过多症。肾上腺皮质功能受损和与治疗相关的间歇性皮质醇过高可能会使患者在成年后易患代谢综合征。我们的目的是评估未使用糖皮质激素治疗的CAH妇女中高雄激素血症对代谢状况的影响。我们评估了未经治疗的先天性先天性肾上腺皮质增生（SV–CAH）的30名未经治疗的中国女性的临床特征和代谢谱。通过对整个21-羟化酶基因（CYP21A2）进行测序来进行突变分析。与对照组相比，CAH患者的BMI较高（BMI为21.5±2.1 vs. 20.0±1.8 kg / m2 ，P <0.05），负荷后2 h血糖水平较高（6. 35±1.74） vs. 5. 35±1.17 mmol / l，P <0.05），较高的血清甘油三酸酯（TG）（1.12±0.64 vs. 0.63±0.15 mmol / l，P <0.01）和较低的高密度脂蛋白胆固醇（HDL- c）（1.30±0.39对1.67±0.29 mmol / l，P <0.01）。此外，CAH患者的空腹胰岛素和胰岛素抵抗稳态模型评估（HOMA-IR）（1.81±0.99与1.24±0.50，P <0.05），而ΔIns30/ΔGlu30两组没有统计学意义的显着差异。此外，在CAH患者中观察到血清脂联素水平显着降低（7.0±3.3 vs. 13.2±4.8μg/ ml，P <0.001），但是，患者和对照组之间的血清CRP水平没有差异。进一步的回归分析表明，较高的血清睾丸激素浓度与代谢紊乱指数和血清脂联素降低有关。我们的研究表明，未经治疗的CAH患者容易发生代谢紊乱，并伴有血清睾丸激素水平升高和胰岛素敏感性降低。

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  • 来源
    《Endocrine》 |2010年第2期|p.260-265|共6页
  • 作者

    Hui-Jie Zhang; Jun Yang; Man-Na Zhang; Chang-Qin Liu; Min Xu; Xue-Jun Li; Shu-Yu Yang; Xiao-Ying Li;

  • 作者单位

    Xiamen Diabetes Institute, Department of Endocrinology and Metabolism, The First Hospital of Xiamen, Xiamen University, 55 Zhenhai Road, Xiamen, 361003, China;

    Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrinology and Metabolism, Department of Endocrinology and Metabolism, Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine, 197 RuiJin 2nd Road, Shanghai, 200025, China;

    Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrinology and Metabolism, Department of Endocrinology and Metabolism, Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine, 197 RuiJin 2nd Road, Shanghai, 200025, China;

    Xiamen Diabetes Institute, Department of Endocrinology and Metabolism, The First Hospital of Xiamen, Xiamen University, 55 Zhenhai Road, Xiamen, 361003, China;

    Shanghai Clinical Center for Endoc;

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  • 原文格式 PDF
  • 正文语种 eng
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  • 关键词

    21-Hydroxylase deficiency; Simple virilizing form; Insulin resistance; CYP21A2;

    机译：21-羟化酶缺乏症;简单的病毒形式;胰岛素抵抗;CYP21A2;

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