Journal Article

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

Hwang, Soojin, Choi, Jin-Ho, Kim, Ja Hye, Kim, Dohyung, Lee, Beom Hee, Kim, Gu-Hwan, Yoo, Han-Wook

2025

Overview

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.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Acidosis / Adenosine triphosphate / Adolescent / Adrenal insufficiency / Adult / Age / Anemia / Cardiomyopathy / Child / Child, Preschool / Diabetes / Diabetes mellitus / Diagnosis / Disease / Endocrine glands / Endocrine System Diseases / Fatty liver / Female / Genes / Genetic testing / Growth rate / Health aspects / Hearing loss / Human Genetics / Humans / Hypoglycemia / Hypoparathyroidism / Infant / Insulin / Insulin-like growth factors / Kearns–Sayre syndrome / Kidney diseases / Kinases / Lactic acidosis / Male / Medical research / Medicine / Medicine & Public Health / Medicine, Experimental / MELAS Syndrome / Middle Aged / Mitochondria / Mitochondrial diseases / Mitochondrial Diseases - pathology / Mitochondrial Diseases - physiopathology / Mitochondrial DNA / Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes / Mutation / Papillary thyroid cancer / Patient outcomes / Patients / Pearson syndrome / Pharmacology/Toxicology / Physiological aspects / Retrospective Studies / Stroke / Stroke-like episodes / Young Adult