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The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness

Josef Finsterer1, Marlies Frank2

  • 1Neurological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria.

Oman Medical Journal
|September 14, 2018
PubMed

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.

Keywords:
DNA, MitochondrialDiabetes MellitusEpilepsyHypoacusisHypogonadismMitochondrial Diseases

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