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BMJ Case Rep ; 16(11)2023 Nov 15.
Article in English | MEDLINE | ID: mdl-37967931

ABSTRACT

Klinefelter syndrome (KS) is the most common cause of primary hypogonadism in male patients; however, the diagnosis of KS is frequently delayed or missed. This delay can lead to undesirable outcomes for patients, especially considering that individuals with KS have a higher risk of developing specific malignancies, including breast cancer, non-Hodgkin's lymphoma and mediastinal germ cell tumours. We present a case of a male patient in his 60s, where the established diagnosis of metastatic bilateral breast cancer prompted us to investigate and subsequently confirm a diagnosis of KS. This case highlights the diagnostic challenges of KS and emphasises the unfavourable consequences of a delayed diagnosis. We aim to raise awareness and enhance physicians' understanding of KS and its non-reproductive manifestations, with a view to promote early recognition and improve patient outcomes.


Subject(s)
Breast Neoplasms , Klinefelter Syndrome , Mediastinal Neoplasms , Humans , Male , Klinefelter Syndrome/complications , Klinefelter Syndrome/diagnosis , Breast Neoplasms/diagnosis
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