A Novel 7301-bp Deletion in Mitochondrial DNA in a Patient with Kearns-Sayre Syndrome, Diabetes Mellitus, and Primary Amenorrhoea
- 1 February 2004
- journal article
- case report
- Published by Georg Thieme Verlag KG in Experimental and Clinical Endocrinology & Diabetes
- Vol. 112 (02) , 80-83
- https://doi.org/10.1055/s-2004-815754
Abstract
We report a 27-year-old woman with a form of mitochondrial myopathy including chronic progressive external opthalmoplegia, retinal pigmentary dystrophy, cerebellar ataxia, and cardiac conduction block (Kearns-Sayre syndrome). At age 13 years a cardiac pacemaker was implanted. She also had sensineural hearing loss, delayed puberty, and primary amenorrhoea. She was weelchair-bound since the age of 20 years. At age 27, insulin-dependent diabetes mellitus and osteoporosis were diagnosed. Insulin treatment was started and associated endocrinopathies were investigated. DNA analysis identified a novel 7301-bp deletion in mitochondrial DNA, ranging from position 6530 to 13 831 corroborating the diagnosis of Kearns-Sayre syndrome.Keywords
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