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XXY/Klinefelter Syndrome in 2000: Expanding the Phenotype and Identifying New Research Directions

Thursday, August 31, 2000 - Wednesday, August 30, 2000
NIH Campus, Bethesda, MD

The clinical and research objectives of this conference were to summarize current knowledge concerning the incidence of Klinefelter syndrome and its genetic (cytologic) basis, clarifying the role X-inactivation plays in the widely varied phenotype; summarize the spectrum of clinical features in XXY Klinefelter syndrome—reproductive dysfunction, structural anomalies, and neurologic/cognitive/behavioral dysfunction; review current treatment and management of hormonal deficiency, infertility, and neurologic/behavioral perturbation; summarize current beliefs concerning the biologic basis of functional defects; and delineate those new research areas that would benefit from more focused attention.

Dr. Felix de la Cruz (301) 496-1383

Co-funding Institute(s):
National Institute of Child Health and Human Development

From the National Center for Advancing Translational Sciences

From the National Institutes of Health

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