Recombinant human growth hormone exposure preceding multisystem manifestations in a patient with MT-TL1 m.3243 A > G-related mitochondrial disease: a ten-year case report

作者：Yinhong Xie, Lizhen Wang, Shuangfeng Yang, Pei Wang, Junhao Zhang, Chengcheng He, Hongyu Lin, Yang Li, Shanfeng Qiu, Shunxian Wang, Shengxiong Pu, Lei Zhang, Jian Chen, Yang Peng, Yun Liu, Ying Ma · 发表于：BMC Neurology · 年份：2026 · DOI：10.1186/s12883-026-05197-6 · 研究领域：Mitochondrial Function and Pathology、Metabolism and Genetic Disorders、GDF15 and Related Biomarkers

Mitochondrial encephalomyopathy (ME) is clinically heterogeneous and frequently misdiagnosed as a single-organ disease. While recombinant human growth hormone (rhGH) is commonly used to treat short stature in children, its safety in patients with undiagnosed ME remains uncertain, with theoretical concerns that it may exacerbate multisystem disease progression. We described a genetically confirmed case of ME in a 24-year-old male patient over a decade. After receiving rhGH therapy at age 14 in 2015 for childhood short stature, he developed a cascade of multisystem manifestations: ptosis and cognitive decline emerged in 2017, followed by an acute metabolic crisis resembling heatstroke in 2018. Over the following years, he was diagnosed with a succession of conditions, including chronic sinusitis, sensorineural hearing loss, diabetes (HbA1c 7.25%), myocardial hypertrophy with elevated troponin (0.016 ng/L), and marked cerebellar atrophy. Laboratory studies consistently showed hyperlactatemia (3.72 mmol/L), and neuropsychological testing indicated mild to moderate cognitive impairment (MMSE 21, MoCA 13). The chronological correlation observed in this case suggested a possible temporal association between rhGH exposure and subsequent multisystem disease expression. However, this single case observation does not establish causality; the observed timeline may, in part, reflect the natural history of MELAS-spectrum disease, which often manifests multisystem involvement during adolesc...