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Search Spring 2013

A Haven for Those With Klinefelter Syndrome

Date: May 1, 2013

Klinefelter Syndrome Center Director Adrian Dobs meets with psychiatrist Cynthia Munro to discuss a patient.
Klinefelter Syndrome Center Director Adrian Dobs meets with psychiatrist Cynthia Munro to discuss a patient.

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 cancer 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.

At the center, all patients see Dobs initially for a complete medical history, exam and discussion about hormone treatment. Then, as needed, 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 with the help of assisted reproduction.

The center, says Dobs, "is filling a need for a rare disease in which we have expertise."

For more information, see To make an appointment or to refer a patient, call 1-855-695-4872.

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