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Minerva Endocrinology 2021 May 20

DOI: 10.23736/S2724-6507.21.03440-0

Copyright © 2021 EDIZIONI MINERVA MEDICA

language: English

Oncological diseases in Klinefelter syndrome: an overview

Myriam AMER 1, Liborio VACCALLUZZO 1, Walter VENA 1 , Gherardo MAZZIOTTI 1, 2, Emanuela MORENGHI 3, Alessandro PIZZOCARO 1

1 Endocrinology, Diabetology and Andrology Unit, Humanitas Clinical and Research Center, IRCCS, Rozzano, Milan, Italy; 2 Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Milan, Italy; 3 Biostatistics Unit, Humanitas Clinical and Research Center, IRCCS, Rozzano, Milan, Italy


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Epidemiological studies have highlighted a higher incidence of morbidity and mortality among individuals with Klinefelter’s syndrome (KS), however, the relative impact of oncological diseases on KS subjects is still uncertain. While some malignancies (e.g., hematological and lung cancers) may show an increased prevalence in the KS population, only a few rare tumors (i.e., extragonadal germ cell tumors [GCTs] and male breast cancer [MBC]) seem to follow this trend. Additionally, hormonal and genetic determinants may be involved in the pathogenesis of neoplasia in KS, even if subjects affected by this syndrome generally show lower incidence of prostate cancer along with lower disease-specific mortality despite testosterone replacement therapy (TRT). This review deals with the pathophysiological and clinical aspects of neoplastic diseases occurring in KS.


KEY WORDS: Klinefelter; Cancer; Male breast cancer; Germ cell tumor; Hematological malignancy; Lung cancer; Prostate cancer

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