Klinefelter syndrome presenting as metastatic bilateral breast cancer: missed diagnostic opportunities.
BMJ Case Rep
; 16(11)2023 Nov 15.
Article
em En
| 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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias da Mama
/
Síndrome de Klinefelter
/
Neoplasias do Mediastino
Limite:
Humans
/
Male
Idioma:
En
Revista:
BMJ Case Rep
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Irlanda