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...

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Bibliographic Details
Main Authors: Josef Finsterer, Marlies Frank
Format: Article
Language:English
Published: Oman Medical Specialty Board 2018-09-01
Series:Oman Medical Journal
Subjects:
Online Access:http://omjournal.org/articleDetails.aspx?coType=1&aId=2149
Description
Summary: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.
ISSN:1999-768X
2070-5204