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Genes 2013, 4(4), 522-535;

Monogenic Diabetes: A Diagnostic Algorithm for Clinicians

Endocrine, Diabetes and Research Centre, Wellington Regional Hospital, Private Bag 7902, Newtown, Wellington 6021, New Zealand
Department of Medicine, University of Otago, Newtown, Wellington 6021, New Zealand
Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand
Author to whom correspondence should be addressed.
Received: 15 July 2013 / Revised: 30 August 2013 / Accepted: 2 September 2013 / Published: 26 September 2013
(This article belongs to the Special Issue Genetics of Diabetes)
Full-Text   |   PDF [823 KB, uploaded 26 September 2013]   |  


Monogenic forms of beta cell diabetes account for approximately 1%–2% of all cases of diabetes, yet remain underdiagnosed. Overlapping clinical features with common forms of diabetes, make diagnosis challenging. A genetic diagnosis of monogenic diabetes in many cases alters therapy, affects prognosis, enables genetic counseling, and has implications for cascade screening of extended family members. We describe those types of monogenic beta cell diabetes which are recognisable by distinct clinical features and have implications for altered management; the cost effectiveness of making a genetic diagnosis in this setting; the use of complementary diagnostic tests to increase the yield among the vast majority of patients who will have commoner types of diabetes which are summarised in a clinical algorithm; and the vital role of cascade genetic testing to enhance case finding. View Full-Text
Keywords: monogenic; diabetes; maturity onset diabetes of the young; neonatal diabetes; genetic testing monogenic; diabetes; maturity onset diabetes of the young; neonatal diabetes; genetic testing

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Carroll, R.W.; Murphy, R. Monogenic Diabetes: A Diagnostic Algorithm for Clinicians. Genes 2013, 4, 522-535.

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