title: Female polysomy-X and systemic lupus erythematosus.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, University of Alberta Hospital, Edmonton, Alberta, Canada. Electronic address: morslae@gmail.com.
authors.forename: Mordechai
authors.initials: M
authors.lastname: Slae
authors.affiliation: Department of Pediatrics, Hadassah-Hebrew University Hospital at Ein Kerem, Jerusalem, Israel.
authors.forename: Merav
authors.initials: M
authors.lastname: Heshin-Bekenstein
authors.affiliation: Department of Pediatrics, Hadassah-Hebrew University Hospital at Ein Kerem, Jerusalem, Israel.
authors.forename: Ari
authors.initials: A
authors.lastname: Simckes
authors.affiliation: Department of Pediatrics, Hadassah-Hebrew University Hospital at Ein Kerem, Jerusalem, Israel.
authors.forename: Gali
authors.initials: G
authors.lastname: Heimer
authors.affiliation: Department of Pediatrics, Hadassah-Hebrew University Hospital at Ein Kerem, Jerusalem, Israel.
authors.forename: Dan
authors.initials: D
authors.lastname: Engelhard
authors.affiliation: Department of Pediatrics, Hadassah-Hebrew University Hospital at Mount-Scopus, Jerusalem, Israel.
authors.forename: Eli M
authors.initials: EM
authors.lastname: Eisenstein
mesh_terms: D002648:Child; D019465:Craniofacial Abnormalities / Q000150:complications*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008180:Lupus Erythematosus, Systemic / Q000150:complications*; D012729:Sex Chromosome Aberrations
keywords: Gene dosage; Lupus genetics; Polysomy-X; SLE; Sex differences; X-chromosome