Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases
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.
Authors
- Soojin Hwang (ORCID: https://orcid.org/0000-0002-1779-237X)
- Han‐Wook Yoo (ORCID: https://orcid.org/0000-0001-8615-186X)
- Gu-Hwan Kim (ORCID: https://orcid.org/0000-0002-7056-7446)
- Beom Hee Lee (ORCID: https://orcid.org/0000-0001-9709-2631)
- Ja Hye Kim (ORCID: https://orcid.org/0000-0002-2477-5199)
- Dohyung Kim (ORCID: https://orcid.org/0000-0001-8245-8995)
- Jin‐Ho Choi (ORCID: https://orcid.org/0000-0003-1196-7826)
Institutions
- Ulsan College (KR)
- Asan Medical Center (KR)
- University of Ulsan (KR)
- CHA University Bundang Medical Center (KR)
- CHA University (KR)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-05-17
- DOI
- https://doi.org/10.1186/s13023-025-03773-6
- Citations
- 1
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- National Research Foundation
- National Research Foundation of Korea
- Ministry of Science and ICT, South Korea