New Hope for Those with Klinefelter Syndrome
Date: September 20, 2013
Boys and men with the chromosomal disorder Klinefelter syndrome, or XXY male, have a new resource for treatment and medical management.
The Johns Hopkins Klinefelter Syndrome Center is the only multidisciplinary program of its kind in the country serving adult males, says endocrinologist Adrian Dobs, the center’s director. (A comprehensive clinic in Colorado is dedicated solely to children with the syndrome.)
One in every 750 males is born with an extra X chromosome. This can lead to a range of health issues seen in Klinefelter syndrome, including infertility, underdeveloped genitals and learning disabilities. The condition has been linked to increased risk for depression and autoimmune disorders, like lupus and rheumatoid arthritis. Affected males are also at higher risk for breast and blood cancers.
“There’s a real gap in the care of men with Klinefelter syndrome,” says Dobs. “These men are complicated, and many are not diagnosed until puberty or adulthood, she says. Up to two-thirds of men with the syndrome are never diagnosed.
A Multidisciplinary Approach to Klinefelter's Syndrome
At the center, all patients see Dobs initially for a complete medical history, exam and discussion about hormone treatment. Then the clinic can coordinate appointments with Hopkins experts in pediatrics, primary care, genetic counseling, urology, neuropsychology (for problems with learning, thinking or mood), and psychology (for gender identity issues).
Testosterone replacement therapy, when started in adolescence, can help ensure proper development of muscles, bones and male sex characteristics, Dobs says. For men interested in fertility preservation, other approaches to hormone therapy should be considered. Infertile men can often father children via assisted reproduction.
The center, which opened a few months ago, so far has seen five patients. “We’re filling a need for a rare disease in which we have expertise,” Dobs says.
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