Klinefelter’s syndrome (47,XXY) among men with systemic lupus erythematosus
- 6 March 2011
- journal article
- research article
- Published by Wiley in Acta Paediatrica
- Vol. 100 (6), 819-823
- https://doi.org/10.1111/j.1651-2227.2011.02185.x
Abstract
Aim: To determine the rate of Klinefelter’s syndrome among men with systemic lupus erythematosus (SLE), and to determine whether the manifestations of SLE in these men are different from that seen in 46,XY men. Methods: A total of 276 men with SLE underwent a real‐time PCR procedure to screen for more than one X chromosome. Those with results consistent with two X chromosomes were further characterized by karyotype and FISH. Clinical manifestations of SLE were determined by interview, questionnaire and medical chart review. Each man with Klinefelter’s and SLE was matched to four 46,XY men with SLE. Rates of SLE manifestations were compared with chi‐square analyses. Results: We found seven of the 286 men with SLE had Klinefelter’s syndrome. Four of these seven were nonmosaic 47,XXY, while two were mosaic 46,XY/47,XXY and one was 46,XX/47,XXY. The men with 47,XXY did not have severe manifestations of SLE including no proliferative renal disease, neurological disease, thrombocytopenia, autoimmune haemolytic anaemia, discoid skin disease or anti‐RNP/Sm. Conclusion: 47,XXY is found in excess among men with SLE. Men commonly have SLE that is more severe than that found among women, but the 47,XXY men had less severe SLE than other men.Keywords
This publication has 27 references indexed in Scilit:
- The Lupus Family Registry and RepositoryRheumatology, 2010
- Review: Male systemic lupus erythematosus: a review of sex disparities in this diseaseLupus, 2009
- 46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLEGenes & Immunity, 2009
- Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: Support for the notion of a gene‐dose effect from the X chromosomeArthritis & Rheumatism, 2008
- A role for sex chromosome complement in the female bias in autoimmune diseaseThe Journal of Experimental Medicine, 2008
- A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor geneMolecular Human Reproduction, 2007
- Biology of the sex and age distribution of systemic lupus erythematosusArthritis & Rheumatism, 2007
- Spontaneous Ovulation in a True Hermaphrodite with Normal Male Phenotype and a Rare 46,XX/47,XXY Klinefelter’s Mosaic KaryotypeHormone Research in Paediatrics, 2007
- Updating the American college of rheumatology revised criteria for the classification of systemic lupus erythematosusArthritis & Rheumatism, 1997
- Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in rhus, DenmarkHuman Genetics, 1991