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https://www.readbyqxmd.com/read/23947115/multiple-endocrinopathies-growth-hormone-deficiency-autoimmune-hypothyroidism-and-diabetes-mellitus-in-kearns-sayre-syndrome
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A Berio, A Piazzi
Kearns-Sayre syndrome is characterized by onset before 20 years, chronic progressive external opthalmoplegia, pigmentary retinal degeneration, and ataxia (and/or hearth block, and/or high protein content in the cerebrospinal fluid) in the presence of mtDNA rearrangements. Multiple endocrine dysfunction associated with this syndrome was rarely reported. In this paper, the Authors report on a female patient with Kearns-Sayre syndrome with large heteroplasmic mtDNA deletion, absence of cytochrome c oxidase in many muscle fibers, partial GH deficiency, hypothyroidism and subsequently insulin dependent diabetes mellitus (IDDM)...
May 2013: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
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