Female polysomy-X and systemic lupus erythematosus

Mordechai Slae*, Merav Heshin-Bekenstein, Ari Simckes, Gali Heimer, Dan Engelhard, Eli M. Eisenstein

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Objectives: Systemic lupus erythematosus (SLE) occurs more commonly in females than in males. Recent evidence suggests that genetic factors transmitted by the X-chromosome may confer increased risk for autoimmune disease in general, and for SLE in particular. It is therefore possible that X-chromosome polysomy might confer further increased risk for lupus. In addition to describing the clinical and immunologic features of a young woman with polysomy-X and SLE, we sought to review all other published cases associating female or male polysomy-X with SLE or other forms of autoimmunity. Methods: We report a case of a prepubertal girl with polysomy-X and SLE. We performed a systemic literature review for cases of polysomy-X and SLE and summarize previously published cases. In addition, we reviewed reports concerning the possible association between SLE and other connective tissue diseases and male polysomy-X. Results: An 11-year-old girl with tetrasomy-X (48 XXXX karyotype) presented with prolonged fever. Workup led to the diagnosis of SLE, and subsequent renal biopsy revealed mild diffuse mesangial proliferative glomerulonephritis. Two additional cases of SLE in women with 47 XXX and one of 48 XXXX karyotype were found in a literature review and compared to the present case. We identified studies that found X-chromosome polysomy to be over-represented in male patients with SLE and case descriptions of connective tissue diseases occurring in patients with polysomy-X. Conclusion: No consistent pattern of disease was observed in female polysomy patients with SLE. Taken together with the data concerning the frequency of polysomy-X among males with SLE, our findings provide additional support for the hypothesis that X-chromosome polysomy may confer increased susceptibility to SLE. Molecular mechanisms that might account for this phenomenon are discussed.

Original languageEnglish
Pages (from-to)508-512
Number of pages5
JournalSeminars in Arthritis and Rheumatism
Issue number4
StatePublished - Feb 2014
Externally publishedYes


  • Gene dosage
  • Lupus genetics
  • Polysomy-X
  • SLE
  • Sex differences
  • X-chromosome


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