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Endocrine Disorders in Primary Mitochondrial Disease.
Iman S Al-Gadi1, Richard H Haas2,3,4,5, Marni J Falk5,6,7,8
1Department of Pediatrics, University of Illinois at Chicago, Chicago, Illinois.
Journal of the Endocrine Society
|March 30, 2018
Summary
Endocrine disorders like diabetes mellitus and abnormal growth are common in mitochondrial disease. Updated screening is crucial for this high-risk population.
Area of Science:
- Endocrinology
- Genetics
- Rare Diseases
Background:
- Endocrine disorders frequently affect individuals with mitochondrial disease.
- Evidence-based screening guidelines are lacking for this population.
- Updated prevalence data is needed to inform screening practices.
Purpose of the Study:
- To determine the point prevalence of specific endocrine conditions in individuals diagnosed with primary mitochondrial disease.
- To provide age-stratified prevalence estimates for key endocrine disorders.
Main Methods:
- Utilized the North American Mitochondrial Disease Consortium Patient Registry, a prospective, physician-curated cohort.
- Included 404 participants of all ages with genetically confirmed primary mitochondrial disease.
- Assessed age-specific prevalence of diabetes mellitus (DM), abnormal growth and sexual maturation (AGSM), hypoparathyroidism, and hypothyroidism.
Main Results:
- Diabetes mellitus prevalence was 2% in pediatric participants (<18 years) and 24.4% in adults.
- Abnormal growth and sexual maturation (AGSM) affected 44.1% of participants.
- Prevalence varied by mitochondrial syndrome, with MELAS showing 31.9% DM; DM was more common with mitochondrial DNA defects (23.3%) than nuclear DNA mutations (3.7%).
Conclusions:
- Diabetes mellitus and abnormal growth/sexual maturation are highly prevalent in primary mitochondrial disease.
- Specific syndromes like MELAS and Kearns-Sayre/Pearson spectrum disorders exhibit a greater burden of endocrinopathies.
- Clinical screening protocols should incorporate the high prevalence of these endocrine disorders.
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