The simplest screen for Klinefelter's in men with lupus is to ask them whether they have had fertility problems. That question, which has a 30 percent sensitivity for identifying a man with Klinefelter's syndrome, can save these men a prolonged infertility evaluation, according to Dr. John Harley, chief of arthritis and immunology at the Oklahoma Medical Research Foundation, Oklahoma City.
Data from the Lupus Family Registry and Repository, which is managed by the Foundation and funded by the NIH National Institute of Arthritis and Musculoskeletal and Skin Diseases, suggest that the risk for lupus "from a sex chromosome perspective" is a gene-dose effect. In collaboration with researchers at the University of Alabama at Birmingham, Dr. Harley and his associates have collected data on more than 200 men with lupus.
Also being studied is the risk of lupus in women with Turner's syndrome, a congenital endocrine disorder caused by failure of the ovaries to respond to pituitary hormone stimulation. Clinically there is amenorrhea, failure of sexual maturation, and usually short stature. Intelligence may be impaired.
Dr. Harley asks rheumatologists who have had male lupus patients, or female lupus patients with Turner's syndrome, to contact the lupus patient registry at the Oklahoma Medical Research Foundation (lupus-recruiter@lupus.omrf.org). Dr. Harley notes that minority men with lupus would be particularly valuable additions to the data base. More information is available on the Foundation's Web site (http://lupus.omrf.org).
--Source: "Screen for Klinefelter's in Men with Lupus," Sally Koch Kubetin, Rheumatology News, July 2009
