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Metabolic disorders in newly diagnosed young adult female patients with simple virilizing 21-hydroxylase deficiency

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Abstract

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.

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Acknowledgments

We are grateful to the consideration and cooperation of all the participants of the study. This study has been supported with the grants from Natural Science Foundation of China (No. 30725037 and 30973912) and Shanghai Committee of Science and Technology (No. 09DJ1400402 and 09XD1403400).

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Authors and Affiliations

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

    Hui-Jie Zhang, Chang-Qin Liu, Xue-Jun Li & Shu-Yu Yang

  2. 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

    Hui-Jie Zhang, Jun Yang, Man-Na Zhang, Min Xu & Xiao-Ying Li

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  1. Hui-Jie Zhang
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Correspondence to Xiao-Ying Li.

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Hui-Jie Zhang and Jun Yang contributed equally to this work.

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Zhang, HJ., Yang, J., Zhang, MN. et al. Metabolic disorders in newly diagnosed young adult female patients with simple virilizing 21-hydroxylase deficiency. Endocr 38, 260–265 (2010). https://doi.org/10.1007/s12020-010-9382-9

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  • DOI: https://doi.org/10.1007/s12020-010-9382-9

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