Klinefelter's syndrome associated with systemic lupus erythematosus and autoimmune hepatitis

Mod Rheumatol. 2006;16(5):305-8. doi: 10.1007/s10165-006-0511-5.

Abstract

Klinefelter's syndrome (KFS) tends to be associated with immunological disorders. We describe a 37-year-old man who presented signs of testicular atrophy and decreased body hair. He showed pancytopenia and elevated levels of liver enzymes. Chromosome analysis revealed 47XXY karyotype; therefore, he was diagnosed with KFS, with systemic lupus erythematosus and autoimmune hepatitis. Treatment with a high dose of methylprednisolone and methyltestosterone improved thrombocytopenia and symptoms, suggesting that methyltestosterone may have a clinical benefit in the treatment of KFS with a low level of testosterone accompanying immunological disorders.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anabolic Agents / therapeutic use
  • Anti-Inflammatory Agents / therapeutic use
  • Antibodies, Antinuclear / blood
  • Chromosome Aberrations
  • Hepatitis, Autoimmune / complications*
  • Hepatitis, Autoimmune / drug therapy
  • Hepatitis, Autoimmune / pathology
  • Humans
  • Klinefelter Syndrome / complications*
  • Klinefelter Syndrome / drug therapy
  • Lupus Erythematosus, Systemic / complications*
  • Lupus Erythematosus, Systemic / drug therapy
  • Male
  • Methylprednisolone / therapeutic use
  • Methyltestosterone / therapeutic use

Substances

  • Anabolic Agents
  • Anti-Inflammatory Agents
  • Antibodies, Antinuclear
  • Methyltestosterone
  • Methylprednisolone