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. 2022 Apr;76(1):151-161.
doi: 10.1007/s12020-021-02966-w. Epub 2022 Jan 14.

High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17α-hydroxylase deficiency

Zhiyuan Zhao  1 , Lin Lu  1 , Ou Wang  1 , Xueyan Wu  1 , Bang Sun  1 , Wei Zhang  1 , Xi Wang  1 , Jiangfeng Mao  1 , Shi Chen  1 , Anli Tong  1 , Min Nie  2
Affiliations

High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17α-hydroxylase deficiency

Zhiyuan Zhao et al. Endocrine. 2022 Apr.

Abstract

Objective: To analyze the prevalence of hypertension-mediated organ damage (HMOD) and its relationship with enzyme activity of mutant CYP17A1 and other risk factors in patients with 17α-hydroxylase/17,20-lyase deficiency (17-OHD).

Methods: A total of 68 patients with 17-OHD were recruited in the Peking Union Medical College Hospital from 2003 to 2021. The incidence of hypertension and HMOD was respectively analyzed. CYP17A1 sequencing was performed and the enzyme activity of mutant CYP17A1 was determined by analyzing the characteristics of mutation itself and the functional data reported previously. A logistic regression model was employed to analyze the factors related to HMOD and the specific damaged organs in 17-OHD patients.

Result(s): Sixty-five patients (95.6%) exhibited hypertension, 32 of whom were diagnosed with HMOD. c.985_987delTACinsAA (p.Y329KfsX418) (53.8%) and c.1459_1467del (p. del D487_F489) (11.4%) were the top two mutations, and no correlation was found between enzyme activity of mutant CYP17A1 and HMOD. The risk of HMOD increased by 32% for each additional year of hypertension duration, 10.2-fold for each one-grade increase in hypertension level, 2.3-fold for each grade of exacerbation of hypokalemia.

Conclusion: Patients with 17-OHD experience a high incidence of HMOD. There was no correlation between the HMOD occurrence and enzyme activity of mutant CYP17A1. Longer duration of hypertension, more severe hypertension, and hypokalemia were independent risk factors for the occurrence of HMOD in patients with 17-OHD.

Keywords: 17α-Hydroxylase/17,20-lyase deficiency; Hypertension; Hypertension-mediated organ damage.

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References

    1. D. EL-Maouche, W. Arlt, D.P. Merke, Congenital adrenal hyperplasia. Lancet 390(10108), 2194–2210 (2017) - DOI
    1. C.E. Kater, E.G. Biglieri, Disorders of steroid 17 alpha-hydroxylase deficiency. Endocrinol. Metab. Clin. North Am. 23(2), 341–357 (1994) - DOI
    1. W.L. Miller, R.J. Auchus, D.H. Geller, The regulation of 17,20 lyase activity. Steroids 62(1), 133–142 (1997) - DOI
    1. B.C. Chung, J. Picado-Leonard, M. Haniu et al. Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues. Proc. Natl. Acad. Sci. U S A. 84(2), 407–411 (1987) - DOI
    1. R.J. Auchus, Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic. J. Steroid. Biochem. Mol. Biol. 165(Pt A), 71–78 (2017) - DOI

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