- Klinefelter's syndrome
- XXY syndrome
News & Events
ORDR Co-Sponsored Conferences
2016 Rare Disease Day at NIH, Monday, February 29, 2016
Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.
XXY/Klinefelter Syndrome in 2000: Expanding the Phenotype and Identifying New Research Directions, Thursday, August 31, 2000 - Wednesday, August 30, 2000
Location: NIH Campus, Bethesda, MD
Description: 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.