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.
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.
Section of Medical Pathophysiology, Department of Experimental Medicine, Center of Rare Diseases, Sapienza University of Rome, Viale del Policlinico 155, 00161, Rome, Italy. francescapanimolle@hotmail.it.
Francesca
F
Panimolle
Section of Medical Pathophysiology, Department of Experimental Medicine, Center of Rare Diseases, Sapienza University of Rome, Viale del Policlinico 155, 00161, Rome, Italy.
Claudio
C
Tiberti
Section of Medical Pathophysiology, Department of Experimental Medicine, Center of Rare Diseases, Sapienza University of Rome, Viale del Policlinico 155, 00161, Rome, Italy.
Simona
S
Granato
Section of Medical Pathophysiology, Department of Experimental Medicine, Center of Rare Diseases, Sapienza University of Rome, Viale del Policlinico 155, 00161, Rome, Italy.
Antonella
A
Semeraro
Section of Medical Pathophysiology, Department of Experimental Medicine, Center of Rare Diseases, Sapienza University of Rome, Viale del Policlinico 155, 00161, Rome, Italy.
Daniele
D
Gianfrilli
Section of Medical Pathophysiology, Department of Experimental Medicine, Center of Rare Diseases, Sapienza University of Rome, Viale del Policlinico 155, 00161, Rome, Italy.
Antonella
A
Anzuini
Section of Medical Pathophysiology, Department of Experimental Medicine, Center of Rare Diseases, Sapienza University of Rome, Viale del Policlinico 155, 00161, Rome, Italy.
Andrea
A
Lenzi
Section of Medical Pathophysiology, Department of Experimental Medicine, Center of Rare Diseases, Sapienza University of Rome, Viale del Policlinico 155, 00161, Rome, Italy.
Antonio
A
Radicioni
D000293:Adolescent; D000311:Adrenal Glands / Q000276:immunology; D000328:Adult; D000368:Aged; D001323:Autoantibodies / Q000032:analysis; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology*; D004702:Endocrine Glands / Q000276:immunology*; D020249:Hormone Replacement Therapy; D006801:Humans; D007006:Hypogonadism / Q000276:immunology; D056724:Immunity, Humoral; D007713:Klinefelter Syndrome / Q000235:genetics* / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D013270:Stomach / Q000276:immunology; D013739:Testosterone / Q000627:therapeutic use; D013961:Thyroid Gland / Q000276:immunology; D055815:Young Adult
D001323:Autoantibodies; D013739:Testosterone
Autoimmunity; Hypogonadism; Klinefelter’s syndrome; Type 1 diabetes