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Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00347464
Recruitment Status : Withdrawn
First Posted : July 4, 2006
Last Update Posted : December 3, 2015
Solvay Pharmaceuticals
Information provided by (Responsible Party):
University of Wisconsin, Madison

Brief Summary:

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.

Condition or disease
Klinefelter Syndrome

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Study Type : Observational
Actual Enrollment : 0 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome
Study Start Date : June 2006
Estimated Study Completion Date : August 2008

Resource links provided by the National Library of Medicine

Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years to 21 Years   (Child, Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Klinefelter males ages 2-21 with proven 49,XXXXY karyotype

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00347464

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United States, Wisconsin
University of Wisconsin School of Medicine and Public Health
Madison, Wisconsin, United States, 53792
Sponsors and Collaborators
University of Wisconsin, Madison
Solvay Pharmaceuticals
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Principal Investigator: Wolfram E Nolten, MD University of Wisconsin, Madison
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Responsible Party: University of Wisconsin, Madison Identifier: NCT00347464    
Other Study ID Numbers: 2005-295
First Posted: July 4, 2006    Key Record Dates
Last Update Posted: December 3, 2015
Last Verified: December 2015
Keywords provided by University of Wisconsin, Madison:
Additional relevant MeSH terms:
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Klinefelter Syndrome
Pathologic Processes
Sex Chromosome Disorders of Sex Development
Disorders of Sex Development
Urogenital Abnormalities
Sex Chromosome Disorders
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn
Gonadal Disorders
Endocrine System Diseases