Kearns Sayre Syndrome: A Rare Cause of Mitochondrial Diabetes and Hypogonadotropic Hypogonadism
Kearns-Sayre syndrome is a rare mitochondrial disease that presents before the age of 20 years with ptosis, external ophthalmoplegia, and pigmentary retinopathy associated with endocrine and cardiac conduction abnormalities. Here we report an 18-year-old female presenting with fever, cough, seconda...
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| Format: | Article |
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Tehran University of Medical Sciences
2025-02-01
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| Series: | Case Reports in Clinical Practice |
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| Online Access: | https://crcp.tums.ac.ir/index.php/crcp/article/view/1010 |
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| author | Sriram Mudraje Jaideep Khare Nancy Garg Sushil Jindal |
| author_facet | Sriram Mudraje Jaideep Khare Nancy Garg Sushil Jindal |
| author_sort | Sriram Mudraje |
| collection | DOAJ |
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Kearns-Sayre syndrome is a rare mitochondrial disease that presents before the age of 20 years with ptosis, external ophthalmoplegia, and pigmentary retinopathy associated with endocrine and cardiac conduction abnormalities. Here we report an 18-year-old female presenting with fever, cough, secondary amenorrhea, diabetes ptosis, external ophthalmople gia, and ataxia . Fundosc opy revealed pigmen tary retinopathy. ECG showed intraventricular conduction abnormalities, and 2D echocardiography revealed global left ventricular hypokinesia with reduced ejection fraction. Hence, the diagnosis of Kearns-Sayre syndrome was made.
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| format | Article |
| id | doaj-art-ef009d476a494afc9cf682b2501a10d3 |
| institution | OA Journals |
| issn | 2538-2683 2538-2691 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Case Reports in Clinical Practice |
| spelling | doaj-art-ef009d476a494afc9cf682b2501a10d32025-08-20T01:57:40ZengTehran University of Medical SciencesCase Reports in Clinical Practice2538-26832538-26912025-02-019410.18502/crcp.v9i4.17987Kearns Sayre Syndrome: A Rare Cause of Mitochondrial Diabetes and Hypogonadotropic HypogonadismSriram Mudraje0Jaideep Khare1Nancy Garg2Sushil Jindal3Department of Endocrinology, People’s College of Medical Sciences and Research Centre, Bhopal,India.Department of Endocrinology, People’s College of Medical Sciences and Research Centre, Bhopal,India.Department of Endocrinology, People’s College of Medical Sciences and Research Centre, Bhopal,India.Department of Endocrinology, People’s College of Medical Sciences and Research Centre, Bhopal,India. Kearns-Sayre syndrome is a rare mitochondrial disease that presents before the age of 20 years with ptosis, external ophthalmoplegia, and pigmentary retinopathy associated with endocrine and cardiac conduction abnormalities. Here we report an 18-year-old female presenting with fever, cough, secondary amenorrhea, diabetes ptosis, external ophthalmople gia, and ataxia . Fundosc opy revealed pigmen tary retinopathy. ECG showed intraventricular conduction abnormalities, and 2D echocardiography revealed global left ventricular hypokinesia with reduced ejection fraction. Hence, the diagnosis of Kearns-Sayre syndrome was made. https://crcp.tums.ac.ir/index.php/crcp/article/view/1010Kearns sayre syndromeMitochondrial diabetesPigmentary retinopathyOphthalmoplegia |
| spellingShingle | Sriram Mudraje Jaideep Khare Nancy Garg Sushil Jindal Kearns Sayre Syndrome: A Rare Cause of Mitochondrial Diabetes and Hypogonadotropic Hypogonadism Case Reports in Clinical Practice Kearns sayre syndrome Mitochondrial diabetes Pigmentary retinopathy Ophthalmoplegia |
| title | Kearns Sayre Syndrome: A Rare Cause of Mitochondrial Diabetes and Hypogonadotropic Hypogonadism |
| title_full | Kearns Sayre Syndrome: A Rare Cause of Mitochondrial Diabetes and Hypogonadotropic Hypogonadism |
| title_fullStr | Kearns Sayre Syndrome: A Rare Cause of Mitochondrial Diabetes and Hypogonadotropic Hypogonadism |
| title_full_unstemmed | Kearns Sayre Syndrome: A Rare Cause of Mitochondrial Diabetes and Hypogonadotropic Hypogonadism |
| title_short | Kearns Sayre Syndrome: A Rare Cause of Mitochondrial Diabetes and Hypogonadotropic Hypogonadism |
| title_sort | kearns sayre syndrome a rare cause of mitochondrial diabetes and hypogonadotropic hypogonadism |
| topic | Kearns sayre syndrome Mitochondrial diabetes Pigmentary retinopathy Ophthalmoplegia |
| url | https://crcp.tums.ac.ir/index.php/crcp/article/view/1010 |
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