ArticleJCEM case reports2026
A case of osteoporotic fracture leading to diagnosis of Klinefelter syndrome in a 76-year-old man.
Article in JCEM case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.
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Corrections and comments
- Erratum issued
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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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