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

NCT00347464 | Withdrawn

• 1 other identifier: 2005-295
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

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.

Conditions

Klinefelter Syndrome

Keywords

Kleinfelter

Eligibility Criteria

• Age: 2 Years - 21 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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.

Sponsors & Collaborators

• University of Wisconsin, Madison: lead
• Solvay Pharmaceuticals: collaborator

Study Sites (1)

University of Wisconsin School of Medicine and Public Health

Madison, Wisconsin, 53792, United States

Location

MeSH Terms

Conditions

Klinefelter Syndrome

Condition Hierarchy (Ancestors)

Sex Chromosome Disorders of Sex Development; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases; Hypogonadism

Study Officials

• Wolfram E Nolten, MD

  University of Wisconsin, Madison

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 29, 2006
• First Posted: July 4, 2006
• Study Start: June 1, 2006
• Study Completion: August 1, 2008
• Last Updated: December 3, 2015

Record last verified: 2015-12

Locations

US (1)