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.

Study Overview

• Status: Withdrawn
• Conditions: Klinefelter Syndrome

• Study Type: Observational

Contacts and Locations

Study Locations

• United States
  • Wisconsin
    • Madison, Wisconsin, United States, 53792
      • University of Wisconsin School of Medicine and Public Health

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 7 months to 19 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Male

• Sampling Method: Non-Probability Sample

Study Population

Klinefelter males ages 2-21 with proven 49,XXXXY karyotype

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

Collaborators and Investigators

• Sponsor: University of Wisconsin, Madison
• Collaborators: Solvay Pharmaceuticals
• Investigators: Principal Investigator: Wolfram E Nolten, MD, University of Wisconsin, Madison

Study record dates

Study Major Dates

• Study Start: June 1, 2006
• Study Completion (Anticipated): August 1, 2008

Study Registration Dates

• First Submitted: June 29, 2006
• First Submitted That Met QC Criteria: June 29, 2006
• First Posted (Estimate): July 4, 2006

Study Record Updates

• Last Update Posted (Estimate): December 3, 2015
• Last Update Submitted That Met QC Criteria: December 1, 2015
• Last Verified: December 1, 2015

More Information

Terms related to this study

• Keywords: Kleinfelter
• Additional Relevant MeSH Terms: Pathologic Processes; Endocrine System Diseases; Disease; Gonadal Disorders; Disorders of Sex Development; Urogenital Abnormalities; Congenital Abnormalities; Genetic Diseases, Inborn; Chromosome Disorders; Sex Chromosome Disorders; Sex Chromosome Disorders of Sex Development; Hypogonadism; Syndrome; Klinefelter Syndrome
• Other Study ID Numbers: 2005-295