Klinefelter Syndrome Clinical Trial
Official title:
Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome
Klinefelter syndrome, a congenital chromosomal abnormality with one or more extra X
chromosomes, occurs in out of 400 live male births. The majority of Klinefelter men present
with a 47, XXY karyotype. The "poly-X variant", with the 49,XXXXY karyotype is uncommon.
This syndrome, where subjects have two or more X chromosomes presents with primary
hypogonadism, and, particularly if associated with the 49,XXXXY karyotype, significantly
impacts life skills across a variety of dimensions, including areas of communication,
community use, functional academics, home/school living, health and safety, leisure,
self-care, self direction, and work. Adaptive behavior abnormalities in 46,XXY men are well
known and described. In the poly-X variant of the 49,XXXXY karyotype, adaptive behavior
abnormalities are expected to be much more significant, making these patients eligible for
services and Social Security benefits.
In 49,XXXXY men no study to date has examined these areas of inquiry in a large patient
population, using a psychometrically sound instrument in a large patient population. Current
publications are limited to individual case reports or small case summaries. It is important
to study the adaptive behavior in its highly abnormal presentation in 49,XXXXY men in order
to learn more about the effect of additional X chromosomes on adaptive skills, which
determine how an individual responds to daily demands and in order to develop treatment and
training goals.
Status | Withdrawn |
Enrollment | 0 |
Est. completion date | August 2008 |
Est. primary completion date | |
Accepts healthy volunteers | No |
Gender | Male |
Age group | 2 Years to 21 Years |
Eligibility |
Inclusion Criteria: - Any Klinefelter male with proven 49,XXXXY karyotype, who does not present with and is not being treated for significant physical/mental illness which might affect his adaptive behavior, who or whose parent or primary caretaker is able to provide informed consent to participate in the study and who or whose parent or primary caretaker has adequate command of the English language, to provide meaningful information will be invited to participate in this study. |
Observational Model: Case-Only, Time Perspective: Prospective
Country | Name | City | State |
---|---|---|---|
United States | University of Wisconsin School of Medicine and Public Health | Madison | Wisconsin |
Lead Sponsor | Collaborator |
---|---|
University of Wisconsin, Madison | Solvay Pharmaceuticals |
United States,
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