Polyendocrinopathy and multisystem involvement are common phenotypic features of Kearns-Sayre syndrome

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DOI:

https://doi.org/10.4081/ejtm.2025.13634

Keywords:

mtDNA, deletion, Kearn-Sayre syndrome, mitochondrial disorder, endocrine involvement

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None.

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References

Amergoolov II, Khruleva YI, Pavlova MG, et al. Endocrine disorders in Kearns-Sayre syndrome with different severity of symptoms: two case reports and a literature review. Eur J Transl Myol 2024;34:12897. DOI: https://doi.org/10.4081/ejtm.2024.12897

Quintos JB, Hodax JK, Gonzales-Ellis BA, et al. Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience. J Pediatr Endocrinol Metab 2016;29:1319-24. DOI: https://doi.org/10.1515/jpem-2016-0172

Finsterer J, Winklehner M, Stöllberger C, Hummel T. Unusual Phenotype and Disease Trajectory in Kearns-Sayre Syndrome. Case Rep Neurol Med 2020;2020:7368527. DOI: https://doi.org/10.1155/2020/7368527

Berio A, Piazzi A. Kearns-Sayre syndrome, compensated hypothyroidism and complete atrio-ventricular block. Panminerva Med 2006;48:258.

Pellock JM, Behrens M, Lewis L, et al. Kearns-Sayre syndrome and hypoparathyroidism. Ann Neurol 1978;3:455-8. DOI: https://doi.org/10.1002/ana.410030519

Kitamura E, Yamane K, Takeuchi M, et al. [Kearns-Shy syndrome associated with choreic movement, primary hypogonadism, and brain CT abnormalities]. Nihon Naika Gakkai Zasshi 1985;74:582-9. Japanese. DOI: https://doi.org/10.2169/naika.74.582

Berio A, Piazzi A. Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome. Pediatr Med Chir 2013;35:137-40. DOI: https://doi.org/10.4081/pmc.2013.48

Carboni P, Giacanelli M, Porro G, et al. Kearns-Sayre syndrome. A case of the complete syndrome with encephalic leukodystrophy and calcification of basal ganglia. Ital J Neurol Sci 1981;2:263-8. DOI: https://doi.org/10.1007/BF02335406

Finsterer J, Scorza FA. Renal manifestations of primary mitochondrial disorders. Biomed Rep 2017;6:487-94. DOI: https://doi.org/10.3892/br.2017.892

Wiseman K, Gor D, Udongwo N, et al. Ventricular arrhythmias in Kearns-Sayre syndrome: A cohort study using the National Inpatient Sample database 2016-2019. Pacing Clin Electrophysiol 2022;45:1357-63. DOI: https://doi.org/10.1111/pace.14607

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14-04-2025

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How to Cite

Polyendocrinopathy and multisystem involvement are common phenotypic features of Kearns-Sayre syndrome. (2025). European Journal of Translational Myology, 35(2). https://doi.org/10.4081/ejtm.2025.13634