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The prevalence of heterozygous CYP21A2 deficiency in patients with idiopathic acne, hirsutism, or both

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Abstract

Purpose

The purpose of this study is to assess the prevalence of heterozygous CYP21A2 mutation and analyze its correlation with clinical manifestation in patients with acne, hirsutism, or both.

Methods

Clinical evaluation, hormone testing, and genetic analysis of the CYP21A2 gene were performed in 60 female patients who visited department of endocrinology of Peking Union Medical College Hospital (PUMCH) for acne, hirsutism, or both from May to November of 2018. The average age of the patients was 26.72 ± 5.73 years. ACTH, Plasma cortisol, LH, FSH, PRL, estradiol, progesterone, testosterone, 17-hydroxyprogesterone (17-OHP), and dehydroepiandrosterone sulfate (DHEA-S) were measured in all participants. Polymerase chain reaction (PCR) combined with sequencing and multiplex ligation dependent probe amplification (MLPA) technique were used to detect the mutation of the CYP21A2 gene. The prevalence of CYP21A2 mutation was compared between the patients and 60 controls, as well as the data in different genetic variant database.

Results

A total of 8.3% (5/60) of individuals with acne, hirsutism, or both in this study were found to harbor heterozygotic CYP21A2 mutation, and the frequency was significantly higher than that in public databases. Identified mutations included V282L (n = 2), I173N (n = 1), E6 cluster [I237N, V238E, and M240K (n = 1)] and large deletion (n = 1). There was no significant difference in hormone levels between heterozygous carriers and subjects with normal CYP21A2 genes.

Conclusions

The prevalence of heterozygous CYP21A2 mutation detected in patients with acne, hirsutism, or both was significantly higher than in the general population. Whether the heterozygous mutation of CYP21A2 is the cause of clinical symptoms needs further assessment.

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Acknowledgements

This work was supported by the National Natural Science Foundation of China (Grant No. 81971375 and 81270879) and National Key Research and Development Program of China (2016YFC0905100) and CAMS Innovation Fund for Medical Sciences (2016-I2M-1–002). We thank all subjects for their participation in the research.

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Authors and Affiliations

  1. NHC key laboratory of Endocrinology, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, 100730, China

    Yinjie Gao, Bingqing Yu, Jiangfeng Mao, Xi Wang, Min Nie & Xueyan Wu

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  1. Yinjie Gao
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  2. Bingqing Yu
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  3. Jiangfeng Mao
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  4. Xi Wang
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  5. Min Nie
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Contributions

Conceived and designed the experiments: MN and XW; collected clinical data: XW, JM; analyzed data: BY, YG; write the paper: MN, YG; revise the paper: XW, JM. All authors have approved the final draft of the paper.

Corresponding authors

Correspondence to Min Nie or Xueyan Wu.

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The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee (Ethics committee of Peking Union Medical College Hospital; S-K159) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Gao, Y., Yu, B., Mao, J. et al. The prevalence of heterozygous CYP21A2 deficiency in patients with idiopathic acne, hirsutism, or both. Endocrine 67, 665–672 (2020). https://doi.org/10.1007/s12020-019-02104-7

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  • DOI: https://doi.org/10.1007/s12020-019-02104-7

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