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Background <p>Antithyroid drug (ATD)-associated agranulocytosis is a rare yet severe adverse event in pediatric hyperthyroidism treatment, significantly increasing the risk of infection and potentially endangering life. Pharmacogenomics is a valuable auxiliary clinical tool that enables the identification of high-risk patients and the implementation of safer medication practices.</p> Case Presentation <p>We present a case of a 9-year-old girl who experienced high fever and lethargy after 26 days of receiving methimazole (MMI). Laboratory examination confirmed agranulocytosis. Following hospitalization, broad-spectrum antibiotic therapy and granulocyte colony-stimulating factor (G-CSF) administration were unsuccessful. Subsequent pharmacogenomic testing revealed the patient’s susceptibility to ATD-induced toxicity. The patient’s granulocyte counts gradually normalized, and clinical symptoms improved after the drug discontinuation. After multidisciplinary consultation, radioiodine (<sup>131</sup>I) therapy was ultimately chosen, resulting in favorable outcomes.</p> Conclusion <p>Pharmacogenomics enhances the safety and precision of pediatric hyperthyroidism management, assists in identifying severe ATD-related adverse reactions, and provides valuable clinical insights.</p>

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Pharmacogenomics-Guided Individualized Treatment for Pediatric Antithyroid Drug-Associated Agranulocytosis: Case Report and Literature Review

  • 期刊论文

  • 发表日期：

    2025年11月27日

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  • Han Sun,
  • Ruoyu Niu,
  • Cheng Guo,
  • Zhu Tian,
  • Xi Hu,
  • Kai Liu

摘要

Background

Antithyroid drug (ATD)-associated agranulocytosis is a rare yet severe adverse event in pediatric hyperthyroidism treatment, significantly increasing the risk of infection and potentially endangering life. Pharmacogenomics is a valuable auxiliary clinical tool that enables the identification of high-risk patients and the implementation of safer medication practices.

Case Presentation

We present a case of a 9-year-old girl who experienced high fever and lethargy after 26 days of receiving methimazole (MMI). Laboratory examination confirmed agranulocytosis. Following hospitalization, broad-spectrum antibiotic therapy and granulocyte colony-stimulating factor (G-CSF) administration were unsuccessful. Subsequent pharmacogenomic testing revealed the patient’s susceptibility to ATD-induced toxicity. The patient’s granulocyte counts gradually normalized, and clinical symptoms improved after the drug discontinuation. After multidisciplinary consultation, radioiodine (131I) therapy was ultimately chosen, resulting in favorable outcomes.

Conclusion

Pharmacogenomics enhances the safety and precision of pediatric hyperthyroidism management, assists in identifying severe ATD-related adverse reactions, and provides valuable clinical insights.