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.
6 affiliations
- 1Department of Neurology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan, China.
- 2Department of Neurology, Yuechi County People's Hospital, Guang'an, Sichuan, China.
- 3Department of Neurology, Affiliated Guangyuan First People's Hospital, Guangyuan, Sichuan, China.
- 4Department of Neurology, Tongliang District People's Hospital, Chongqing, China.
- 5Department of Forensic Pathology, School of Basic Medical Sciences and Forensic Medicine, North Sichuan Medical College, Nanchong, Sichuan, China. [email protected].
- 6Department of Neurology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan, China. [email protected].
Abstract
Background
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.Case presentation
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).Conclusions
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 adolescence and early adulthood. Nonetheless, this report highlights the importance of clinical vigilance and thorough evaluation for underlying mitochondrial disorders prior to initiating rhGH treatment, especially in children with short stature and subtle neurological symptoms.
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BibTeX
@article{xie2026recombinant,
title = {{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.}},
author = {Yinhong Xie and Lizhen Wang and Shuangfeng Yang and Pei Wang and Junhao Zhang and Chengcheng He and Hongyu Lin and Yang Li and Shanfeng Qiu and Shunxian Wang and Shengxiong Pu and Lei Zhang and Jian Chen and Yang Peng and Yun Liu and Ying Ma},
journal = {BMC neurology},
year = {2026},
month = aug,
doi = {10.1186/s12883-026-05197-6},
url = {https://europepmc.org/article/MED/42958081},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - 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.
AU - Yinhong Xie
AU - Lizhen Wang
AU - Shuangfeng Yang
AU - Pei Wang
AU - Junhao Zhang
AU - Chengcheng He
AU - Hongyu Lin
AU - Yang Li
AU - Shanfeng Qiu
AU - Shunxian Wang
AU - Shengxiong Pu
AU - Lei Zhang
AU - Jian Chen
AU - Yang Peng
AU - Yun Liu
AU - Ying Ma
PY - 2026
DA - 2026/08/03
JO - BMC neurology
DO - 10.1186/s12883-026-05197-6
UR - https://europepmc.org/article/MED/42958081
AB - Background 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.Case presentation 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).Conclusions 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 adolescence and early adulthood. Nonetheless, this report highlights the importance of clinical vigilance and thorough evaluation for underlying mitochondrial disorders prior to initiating rhGH treatment, especially in children with short stature and subtle neurological symptoms.
SN - 1471-2377
ER -