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Endocrine

, Volume 52, Issue 1, pp 157–164 | Cite as

Screening of endocrine organ-specific humoral autoimmunity in 47,XXY Klinefelter’s syndrome reveals a significant increase in diabetes-specific immunoreactivity in comparison with healthy control men

  • Francesca PanimolleEmail author
  • Claudio Tiberti
  • Simona Granato
  • Antonella Semeraro
  • Daniele Gianfrilli
  • Antonella Anzuini
  • Andrea Lenzi
  • Antonio Radicioni
Original Article
First Online:

Abstract

The aim of this study was to evaluate the frequency of humoral endocrine organ-specific autoimmunity in 47,XXY Klinefelter’s syndrome (KS) by investigating the autoantibody profile specific to type 1 diabetes (T1DM), Addison’s disease (AD), Hashimoto thyroiditis (HT), and autoimmune chronic atrophic gastritis (AG). Sixty-one adult Caucasian 47,XXY KS patients were tested for autoantibodies specific to T1DM (Insulin Abs, GAD Abs, IA-2 Abs, Znt8 Abs), HT (TPO Abs), AD (21-OH Abs), and AG (APC Abs). Thirty-five of these patients were not undergoing testosterone replacement therapy TRT (Group 1) and the remaining 26 patients started TRT before the beginning of the study (Group 2). KS autoantibody frequencies were compared to those found in 122 control men. Six of 61 KS patients (9.8 %) were positive for at least one endocrine autoantibody, compared to 6.5 % of controls. Interestingly, KS endocrine immunoreactivity was directed primarily against diabetes-specific autoantigens (8.2 %), with a significantly higher frequency than in controls (p = 0.016). Two KS patients (3.3 %) were TPO Ab positive, whereas no patients were positive for AD- and AG-related autoantigens. The autoantibody endocrine profile of untreated and treated KS patients was not significantly different. Our findings demonstrate for the first time that endocrine humoral immunoreactivity is not rare in KS patients and that it is more frequently directed against type 1 diabetes-related autoantigens, thus suggesting the importance of screening for organ-specific autoimmunity in clinical practice. Follow-up studies are needed to establish if autoantibody-positive KS patients will develop clinical T1DM.

Keywords

Klinefelter’s syndrome Type 1 diabetes Hypogonadism Autoimmunity 
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Notes

Acknowledgments

The study was funded by the Italian Ministry of Health and the Italian Medicines Agency (AIFA): research project MRAR08Q009 on rare diseases. Author’s contribution: F.P. contributed to data collection, statistical analysis, data interpretation, wrote the manuscript; C.T. contributed to data interpretation and revised the manuscript; G.S., A.A., and A.S. contributed to data collection; L.A. and G.D. revised the manuscript; R.A. is the guarantor of this work and, as such, had full access to all data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. Thanks to Marie-Hélène Hayles for the language revision.

Conflict of interest

No potential conflicts of interest relevant to this article were reported.

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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Francesca Panimolle
    • 1
    Email author
  • Claudio Tiberti
    • 1
  • Simona Granato
    • 1
  • Antonella Semeraro
    • 1
  • Daniele Gianfrilli
    • 1
  • Antonella Anzuini
    • 1
  • Andrea Lenzi
    • 1
  • Antonio Radicioni
    • 1
  1. 1.Section of Medical Pathophysiology, Department of Experimental Medicine, Center of Rare DiseasesSapienza University of RomeRomeItaly

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