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

Clin Med (Lond). 2021 Jul;21(4):e420-e422. doi: 10.7861/clinmed.2021-0348.

Abstract

Klinefelter 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.

Keywords: Klinefelter syndrome; osteoporosis,; primary hypogonadism; vertebral fracture.

Publication types

  • Case Reports

MeSH terms

  • Comorbidity
  • Humans
  • Klinefelter Syndrome* / complications
  • Klinefelter Syndrome* / diagnosis
  • Klinefelter Syndrome* / epidemiology
  • Male
  • Middle Aged
  • Osteoporosis* / complications
  • Osteoporosis* / epidemiology
  • Phenotype
  • Spinal Fractures* / complications
  • Spinal Fractures* / diagnostic imaging