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Trial record 8 of 27 for:    "klinefelter syndrome"

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

This study has been withdrawn prior to enrollment.
Solvay Pharmaceuticals
Information provided by (Responsible Party):
University of Wisconsin, Madison Identifier:
First received: June 29, 2006
Last updated: December 1, 2015
Last verified: December 2015

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.

Klinefelter Syndrome

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome

Resource links provided by NLM:

Further study details as provided by University of Wisconsin, Madison:

Enrollment: 0
Study Start Date: June 2006
Estimated Study Completion Date: August 2008

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.
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Please refer to this study by its identifier: NCT00347464

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
Principal Investigator: Wolfram E Nolten, MD University of Wisconsin, Madison
  More Information

Responsible Party: University of Wisconsin, Madison Identifier: NCT00347464     History of Changes
Other Study ID Numbers: 2005-295
Study First Received: June 29, 2006
Last Updated: December 1, 2015

Keywords provided by University of Wisconsin, Madison:

Additional relevant MeSH terms:
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
Hypogonadism processed this record on September 21, 2017