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The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD-Syndrome)

Two Affected Sibs and a Short Review of the Literature (98 Cases)

Diabetes insipidus, Diabetes mellitus, Opticusatrophie, Schwerhörigkeit und andere Abnormalitäten (DIDMOAD-Syndrom)

Ein Geschwisterpaar mit diesem Syndrom und eine kurze Literaturübersicht (98 Fälle)

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Summary

We describe two sibs with DIDMOAD-Syndrome, a 19-year-old girl with diabetes mellitus (type I), optic atrophy, inner-ear deafness, and atonia of the urinary tract, and her 5-year-old brother with diabetes mellitus (type I) and optic atrophy. Studies of red blood cell insulin receptors revealed a normal number of receptors per cell and normal affinity to insulin. The syndrome represents an autosomal recessively inherited type of diabetes mellitus, which remains often undiagnozed since most of the symptomes except diabetes mellitus and optic atrophy occur with varying expressivity. An atonia of the efferent urinary tract often with fatal complications is present in 46% of all patients with this syndrome reported in the literature and is unfortunately not included in the acronym DIDMOAD.

Zusammenfassung

Wir berichten über ein Geschwisterpaar mit DIDMOAD-Syndrom: ein 19 Jahre altes Mädchen mit Typ I Diabetes mellitus, Optikusatrophie, Innenohrschwerhörigkeit und Atonie der ableitenden Harnwege und ihren fünfjährigen Bruder mit Typ I Diabetes mellitus und Optikusatrophie. Untersuchungen der Insulinrezeptoren an Erythrozyten ergaben eine normale Anzahl pro Zelle und eine normale Affinität zum Insulin. Das Syndrom entspricht einem autosomal rezessiv erblichen Typ des juvenilen Diabetes mellitus, der häufig undiagnostiziert bleibt, da die meisten Symptome außer Diabetes mellitus und Optikusatrophie sehr unterschiedlich ausgeprägt sind. Die Atonie der ableitenden Harnwege, oft mit fatalen Komplikationen, tritt nach der Literatur bei 46% der Patienten mit diesem Syndrom auf und wird leider mit dem Acronym DIDMOAD nicht erfaßt.

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Authors and Affiliations

  1. I. Med. Klinik am UKE, Martinistr. 52, D-2000, Hamburg 20, Federal Republic of Germany

    M. Dreyer, H. W. Rüdiger, J. Kühnau, P. Maack & H. Bartelheimer

  2. Augenklinik und -Poliklinik, Germany

    K. Bujara

  3. Klinik und Poliklinik für Hals-, Nasen- und Ohrenkrankheiten, Universität Hamburg, Germany

    C. Herberhold

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  1. M. Dreyer
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  2. H. W. Rüdiger
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  3. K. Bujara
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  4. C. Herberhold
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  5. J. Kühnau
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  6. P. Maack
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  7. H. Bartelheimer
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Dreyer, M., Rüdiger, H.W., Bujara, K. et al. The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD-Syndrome). Klin Wochenschr 60, 471–475 (1982). https://doi.org/10.1007/BF01720362

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  • DOI: https://doi.org/10.1007/BF01720362

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