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2018 ; 2
(4
): 361-373
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Endocrine Disorders in Primary Mitochondrial Disease
#MMPMID29594260
Al-Gadi IS
; Haas RH
; Falk MJ
; Goldstein A
; McCormack SE
J Endocr Soc
2018[Apr]; 2
(4
): 361-373
PMID29594260
show ga
CONTEXT: Endocrine disorders are common in individuals with mitochondrial
disease. To develop evidence-based screening practices in this high-risk
population, updated age-stratified estimates of the prevalence of endocrine
conditions are needed. OBJECTIVE: To measure the point prevalence of selected
endocrine disorders in individuals with mitochondrial disease. DESIGN SETTING AND
PATIENTS: The North American Mitochondrial Disease Consortium Patient Registry is
a large, prospective, physician-curated cohort study of individuals with
mitochondrial disease. Participants (n = 404) are of any age, with a diagnosis of
primary mitochondrial disease confirmed by molecular genetic testing. MAIN
OUTCOME MEASURES: Age-specific prevalence of diabetes mellitus (DM), abnormal
growth and sexual maturation (AGSM), hypoparathyroidism, and hypothyroidism.
RESULTS: The majority of our sample was pediatric (<18 years; 60.1%), female
(56.9%), and white (85.9%). DM affected 2% of participants aged <18 years [95%
confidence interval (CI): 0.4% to 5.7%] and 24.4% of adult participants (95% CI:
18.6% to 30.9%). DM prevalence was highest in individuals with mitochondrial
encephalomyopathy, lactic acidosis, and strokelike episodes syndrome (MELAS;
31.9%, of whom 86.2% had the m.3243A>G mutation). DM occurred more often with
mitochondrial DNA defects (point mutations and/or deletions) than with nuclear
DNA mutations (23.3% vs 3.7%, respectively; P < 0.001). Other prevalence
estimates were 44.1% (95% CI: 38.8% to 49.6%) for AGSM; 0.3% (95% CI: 0% to 1.6%)
for hypoparathyroidism; and 6.3% (95% CI: 4% to 9.3%) for hypothyroidism.
CONCLUSION: DM and AGSM are highly prevalent in primary mitochondrial disease.
Certain clinical mitochondrial syndromes (MELAS and Kearns-Sayre/Pearson syndrome
spectrum disorders) demonstrated a higher burden of endocrinopathies. Clinical
screening practices should reflect the substantial prevalence of endocrine
disorders in mitochondrial disease.
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