Increased loss of the Y chromosome in peripheral blood cells in male patients with autoimmune thyroiditis

Luca Persani, Marco Bonomi, Ana Lleo, Simone Pasini, Fabiola Civardi, Ilaria Bianchi, Irene Campi, Palma Finelli, Monica Miozzo, Chiara Castronovo, Silvia Sirchia, M. Eric Gershwin, Pietro Invernizzi

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44 Scopus citations


Multiple mechanisms have been proposed to explain the peculiar distribution of autoimmune thyroiditis (AIT) among women and men. Most attention has been focused on the detection of the role of estrogens and the X chromosome. Specifically, a potential role for X haploinsufficiency has been proposed in the female patient population and an association with the disease has been confirmed. Our knowledge of the etiopathogenesis of autoimmunity in male patients remains, however, limited. Next to the possible role of androgens and their imbalances, the Y chromosome appears as a potential candidate for influence of the immune function in men. Herein we analyzed a population of male patients with AIT (n=31) and healthy controls (n=88) to define a potential association of disease and the loss of the Y chromosome. Y chromosome loss increases in AIT compared to unaffected subjects; these phenomenon increases with aging as expected, however, the degree of loss is significantly increased in the patient population compared to the healthy controls. We were, thus, able to confirm the existence of an analogous mechanism in the male population to previously identified X haploinsufficiency in female patients with AIT. We propose that this commonality might represent a relevant feature in the etiopathogenesis of AIT that should be further investigated.

Original languageEnglish (US)
JournalJournal of Autoimmunity
Issue number2-3
StatePublished - May 2012


  • Autoimmunity
  • Gender medicine
  • Sex chromosomes

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy


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