The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness
Maternally inherited diabetes and deafness (MIDD) is not only a disorder of the pancreas and ears but a multisystem mitochondrial disorder syndrome. Hypogonadism, however, has not been reported as a phenotypic feature of MIDD. We report a single case of a patient with MIDD which manifested clinicall...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Oman Medical Specialty Board
2018-09-01
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| Series: | Oman Medical Journal |
| Subjects: | |
| Online Access: | http://omjournal.org/articleDetails.aspx?coType=1&aId=2149 |
| _version_ | 1818129869727334400 |
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| author | Josef Finsterer Marlies Frank |
| author_facet | Josef Finsterer Marlies Frank |
| author_sort | Josef Finsterer |
| collection | DOAJ |
| description | Maternally inherited diabetes and deafness (MIDD) is not only a disorder of the pancreas and ears but a multisystem mitochondrial disorder syndrome. Hypogonadism, however, has not been reported as a phenotypic feature of MIDD. We report a single case of a patient with MIDD which manifested clinically at 41 years old. In addition to diabetes and deafness, he manifested with seizures, ataxia, myopathy, and hypogonadism. We used established methods for the routine workup of this patient. MIDD is indeed a multisystem condition. A previously undescribed phenotypic feature of MIDD may be hypogonadism. |
| first_indexed | 2024-12-11T07:56:00Z |
| format | Article |
| id | doaj.art-d45f0b92b0004709a1a9a7b983a818dc |
| institution | Directory Open Access Journal |
| issn | 1999-768X 2070-5204 |
| language | English |
| last_indexed | 2024-12-11T07:56:00Z |
| publishDate | 2018-09-01 |
| publisher | Oman Medical Specialty Board |
| record_format | Article |
| series | Oman Medical Journal |
| spelling | doaj.art-d45f0b92b0004709a1a9a7b983a818dc2022-12-22T01:15:14ZengOman Medical Specialty BoardOman Medical Journal1999-768X2070-52042018-09-0133543744010.5001/omj.2018.80The Tip of the Iceberg in Maternally Inherited Diabetes and DeafnessJosef Finsterer0Marlies Frank1Neurological Department, Krankenanstalt Rudolfstiftung, Vienna, AustriaFirst Medical Department, Krankenanstalt Rudolfstiftung, Vienna, AustriaMaternally inherited diabetes and deafness (MIDD) is not only a disorder of the pancreas and ears but a multisystem mitochondrial disorder syndrome. Hypogonadism, however, has not been reported as a phenotypic feature of MIDD. We report a single case of a patient with MIDD which manifested clinically at 41 years old. In addition to diabetes and deafness, he manifested with seizures, ataxia, myopathy, and hypogonadism. We used established methods for the routine workup of this patient. MIDD is indeed a multisystem condition. A previously undescribed phenotypic feature of MIDD may be hypogonadism.http://omjournal.org/articleDetails.aspx?coType=1&aId=2149Mitochondrial DiseasesHypogonadismEpilepsyDiabetes MellitusHypoacusisDNAMitochondrial |
| spellingShingle | Josef Finsterer Marlies Frank The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness Oman Medical Journal Mitochondrial Diseases Hypogonadism Epilepsy Diabetes Mellitus Hypoacusis DNA Mitochondrial |
| title | The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness |
| title_full | The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness |
| title_fullStr | The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness |
| title_full_unstemmed | The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness |
| title_short | The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness |
| title_sort | tip of the iceberg in maternally inherited diabetes and deafness |
| topic | Mitochondrial Diseases Hypogonadism Epilepsy Diabetes Mellitus Hypoacusis DNA Mitochondrial |
| url | http://omjournal.org/articleDetails.aspx?coType=1&aId=2149 |
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