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Klinefelter Syndrome and Diabetes

  • Other Forms of Diabetes and Its Complications (JJ Nolan and H Thabit, Section Editors)
  • Published:
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Abstract

Purpose of Review

Klinefelter syndrome (KS) is associated with increased insulin resistance and high rates of type 2 diabetes (T2DM). Our aim was to review what is known about the prevalence of diabetes in men with KS, potential mechanisms underlying the observed metabolic phenotype, and the data that are available to guide treatment decisions.

Recent Findings

The increased prevalence of T2DM seen in men with KS appears to be the result of multiple mechanisms including increased truncal adiposity and socioeconomic disadvantages, but it is likely not a direct consequence of hypogonadism alone. No randomized trials have been conducted to evaluate the impact of testosterone replacement therapy on T2DM in men with KS, but observational data suggest that testosterone replacement is not associated with lower rates of diabetes or improved glycemic control.

Summary

Metabolic derangements are common in KS, but treatment strategies specific to this population are lacking. Early lifestyle and dietary interventions are likely important. Additional research is needed to dissect the complex interaction between genotype and metabolic phenotype. Collaboration between academic centers caring for men with KS is needed to facilitate the development of evidence-based clinical practice guidelines, which would inform optimal screening and treatment strategies for this patient population.

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Authors and Affiliations

  1. Endocrine Division, Massachusetts General Hospital, Boston, MA, USA

    Mark J. O’Connor

  2. Medical Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, MA, USA

    Emma A. Snyder

  3. Reproductive Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, MA, 02114, USA

    Frances J. Hayes

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  1. Mark J. O’Connor
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  2. Emma A. Snyder
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  3. Frances J. Hayes
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Correspondence to Frances J. Hayes.

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This article is part of the Topical Collection on Other Forms of Diabetes and Its Complications

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O’Connor, M.J., Snyder, E.A. & Hayes, F.J. Klinefelter Syndrome and Diabetes. Curr Diab Rep 19, 71 (2019). https://doi.org/10.1007/s11892-019-1197-3

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