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. 2025 May 17;20(1):235.
doi: 10.1186/s13023-025-03773-6.

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

Ja Hye Kim  1 , Dohyung Kim  1 , Soojin Hwang  1 , Gu-Hwan Kim  2 , Beom Hee Lee  1   2 , Han-Wook Yoo #  3 , Jin-Ho Choi #  4
Affiliations

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

Ja Hye Kim et al. Orphanet J Rare Dis. .

Abstract

Background: Endocrine dysfunctions are commonly associated with mitochondrial diseases. This study aimed to investigate clinical characteristics and outcomes of endocrine manifestations in patients with mitochondrial diseases.

Methods: This study included 54 patients from 47 families with mitochondrial diseases who were genetically confirmed; 49 patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), four with Pearson syndrome, and one with Kearns-Sayre syndrome (KSS). Clinical and endocrine findings were retrospectively reviewed.

Results: The median age at diagnosis was 18.5 years (range, 0.1 - 49 years). In 49 patients with MELAS, the mean height and weight standard deviation scores were - 2.0 ± 1.3 and - 2.6 ± 1.6, respectively, with 44.9% (n = 22) of the patients exhibiting short stature at diagnosis. Twenty-three (46.9%) patients with MELAS were diagnosed with diabetes mellitus (DM) at a median age of 26 years (range, 12 - 50 years). Interestingly, papillary thyroid cancer was observed in 10.2% of patients (n = 5) with MELAS at a mean age of 34.1 ± 6.9 years. One patient with MELAS and one with KSS exhibited hypoparathyroidism. Patients with Pearson syndrome and KSS exhibited more severe short stature. Adrenal insufficiency was noted in 50% of the patients with Pearson syndrome.

Conclusions: In 20% of patients with MELAS, endocrine dysfunctions including having a short stature, DM, and hypoparathyroidism preceded the onset of neurological manifestations. Papillary thyroid cancer occurred in 10% of patients with MELAS. Patients with Pearson syndrome and KSS showed profound growth retardation and multisystem dysfunctions, such as chronic kidney disease and neurological defects, which contributed to increased mortality.

Keywords: Adrenal insufficiency; Diabetes mellitus; Hypoparathyroidism; Kearns–Sayre syndrome; Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes; Pearson syndrome.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: This study was approved by the Institutional Review Board of the Asan Medical Center, Seoul, Korea (IRB No. 2024 − 0271). Consent for publication: All authors agreed to publish the manuscript. Competing interests: The authors declare that they have no completing interests.

Figures

Fig. 1
Fig. 1
Trajectories of height SDS in patients with juvenile-onset MELAS
Fig. 2
Fig. 2
The Kaplan-Meier cumulative incidence curve for the time to diagnosis of diabetes in MELAS patients with the m.3243 A > G mutation
See this image and copyright information in PMC

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