Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases

Kim JH; Kim D; Hwang S; Kim GH; Lee BH; Yoo HW; Choi JH.

doi:10.1530/ey.22.9.13

9.13

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ESPE Yearbook of Paediatric Endocrinology (2025) 22 9.13 | DOI: 10.1530/ey.22.9.13

ESPEYB25 9. Oncology and Chronic Disease Endocrine Health in Chronic Non-Neoplastic Diseases (3 abstracts)

9.13. Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases

Kim JH , Kim D , Hwang S , Kim GH , Lee BH , Yoo HW & Choi JH.

Orphanet J Rare Dis. 2025 May 17;20(1):235. PMID: 40382647. doi: 10.1186/s13023-025-03773-6. [email protected]

Brief summary: This single centre, retrospective study evaluated endocrine manifestations in 54 patients with primary mitochondrial diseases (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, MELAS; Pearson syndrome; Kearns–Sayre syndrome, KSS) at mean age 18.5 years (range 0.1–43).

Approximately half of MELAS patients had short stature, which was already present at diagnosis in half of these cases, as well as low body weight. 29 of 43 patients had short final height. Similarly, about half of the patients had previously diagnosed diabetes mellitus (mean age at diagnosis: 26 years, range 12–50; mean HbA1c: 7.9%, mean glucose level: 385 mg/dl). 10 of 23 patients presented with diabetes prior to MELAS diagnosis, with a median interval 10 years from diabetes onset. 5 of 49 patients were diagnosed with papillary thyroid carcinoma, at mean age at diagnosis 34 years.

Comment: This Korean study shows that patients with primary mitochondrial disease may manifest a wide spectrum of endocrine dysfunctions, often accompanied by multiorgan and particularly neurological abnormalities. Endocrinologists should consider mitochondrial diseases in patients presenting with short stature, low BMI, diabetes mellitus, and neurological features such as developmental delay or hearing loss. The presentation of diabetes mellitus can precede the diagnosis of mitochondrial disease, is usually indolent, and should not be treated with metformin due to the risk of precipitating lactic acidosis. The suspected association between papillary thyroid cancer and MELAS appears significant and requires confirmation in larger case series. Study limitations include the retrospective design, which resulted in missing data and a limited sample size. Furthermore, growth assessment was incomplete due to the lack of essential data such as target height, pubertal status, bone age, and GH response to stimulation tests.