Document
The tip of the iceberg in maternally inherited diabetes and deafness.
Identifier
DOI 10.5001/omj.2018.80
Contributors
Frank, Marlies., Author
Publisher
Oman Medical Specialty Board.
Gregorian
2018-09
Language
English
Subject
English abstract
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.
Member of
Resource URL
Citation
Finsterer, Josef, & Frank, Marlies (2018). The tip of the iceberg in maternally inherited diabetes and deafness. Oman Medical Journal, 33 (5), 437-440.
Category
Journal articles