Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2018 Sep;33(5):437-440.
doi: 10.5001/omj.2018.80.

The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness

Josef Finsterer  1 , Marlies Frank  2
Affiliations
Case Reports

The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness

Josef Finsterer et al. Oman Med J. 2018 Sep.

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.

Keywords: DNA, Mitochondrial; Diabetes Mellitus; Epilepsy; Hypoacusis; Hypogonadism; Mitochondrial Diseases.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

References

    1. Li HZ, Li RY, Li M. A review of maternally inherited diabetes and deafness. Front Biosci (Landmark Ed) 2014. Jan;19:777-782. 10.2741/4244 - DOI - PubMed
    1. Naing A, Kenchaiah M, Krishnan B, Mir F, Charnley A, Egan C, et al. Maternally inherited diabetes and deafness (MIDD): diagnosis and management. J Diabetes Complications 2014. Jul-Aug;28(4):542-546. 10.1016/j.jdiacomp.2014.03.006 - DOI - PubMed
    1. Finsterer J, Frank M. Maternally inherited diabetes and deafness is phenotypically and genotypically heterogeneous. J Neuroophthalmol 2016. Sep;36(3):346-347. 10.1097/WNO.0000000000000387 - DOI - PubMed
    1. van den Ouweland JM, Lemkes HH, Gerbitz KD, Maassen JA. Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation. Muscle Nerve Suppl 1995;3:S124-S130. 10.1002/mus.880181425 - DOI - PubMed
    1. Kobayashi Z, Tsunemi T, Miake H, Tanaka S, Watabiki S, Morokuma Y. A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI). Intern Med 2005. Apr;44(4):328-331. 10.2169/internalmedicine.44.328 - DOI - PubMed

Publication types

LinkOut - more resources