• Clin Med (Lond) · Jul 2021

    Case Reports

    Lessons of the month 3: Mosaic Klinefelter syndrome unveiled by acute vertebral fracture in a middle-aged man.

    • Aye Chan Maung, Jenny Yc Hsieh, David Carmody, and Swee Du Soon.
    • Singapore General Hospital, Singapore chanmaung.aye@mohh.com.sg.
    • Clin Med (Lond). 2021 Jul 1; 21 (4): e420e422e420-e422.

    AbstractKlinefelter syndrome (KS) is the most common sex chromosome disorder in males. It is the result of two or more X chromosomes in a phenotypic male. In addition to primary hypogonadism affecting male sexual development, it is associated with a series of comorbidities such as osteoporosis, psychiatric and cognitive disorders, metabolic syndromes, and autoimmune diseases. A broad spectrum of phenotypes has been described and many cases remain undiagnosed throughout their lifespan. In this case report, we describe a case of mosaic KS unmasked by acute vertebral fracture.© Royal College of Physicians 2021. All rights reserved.

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