A case of osteoporotic fracture leading to diagnosis of Klinefelter syndrome in a 76-year-old man

一名76岁男性因骨质疏松性骨折确诊为克氏综合征。

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Abstract

Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder in men but often remains clinically silent until later life. We describe an elderly man whose evaluation for a rib fracture uncovered the diagnosis. A 76-year-old male presented after a low-impact fracture during a coughing episode. Clinical history revealed delayed sexual maturation, small testes, infertility, and mild gynecomastia. Hormonal testing demonstrated markedly reduced testosterone with elevated luteinizing and follicle-stimulating hormones, suggesting primary testicular failure. Karyotype analysis confirmed 47,XXY. Bone mineral density testing revealed osteopenia, meeting criteria for clinical osteoporosis. He received intravenous zoledronic acid, while androgen therapy was postponed pending urologic assessment. This case emphasizes that KS can remain undetected for decades and highlights the need to consider hypogonadism in men with unexplained bone loss. Early recognition facilitates appropriate treatment and long-term monitoring for associated systemic complications.

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