مقالة علمية
The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness

Finsterer, Josef.


 

The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness

Finsterer, Josef.

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.

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 clinic...

المؤلف : Finsterer, Josef.

مؤلف مشارك : Marlies Frank

بيانات النشر : Muscat، Sultanate of Oman : Oman Medical Journal، سبتمبر 2018مـ.

التصنيف الموضوعي : العلوم التطبيقية|العلوم الطبية .

المواضيع : Mitochondrial Diseases .

Hypogonadism .

Epilepsy .

رقم الطبعة : 5

المصدر : Oman Medical Journal : Muscat، Sultanate of Oman.

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