A case of osteoporotic fracture leading to diagnosis of Klinefelter syndrome in a 76-year-old man
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.
How strong is the evidence?
Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- Effectiveness of Bisphosphonates and Denosumab on Risk of Vertebral Fractures in Prostate Cancer Patients Under Androgen Deprivation Therapies: A Real-World Prospective Study
- Osteoporosis-related fractures after spinal cord injury: a retrospective study from Brazil
- Serum 25-hydroxyvitamin D, parathyroid hormone, and mortality in older men
- Lack of Association between Vitamin D Insufficiency and Cardiovascular or Fracture Risk: A UK Biobank Study
- Muscle strength and body composition are clinical indicators of osteoporosis
- Incidence of bone protection and associated fragility injuries in patients with proximal femur fractures
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.