Adaptation Among Adolescents and Adults With Klinefelter Syndrome

NCT00896272 | Completed

• 2 other identifiers: 99990914209-HG-N142
• Study Type: observational
• Target: 302
• Locations: 1 country
• Sites: 1

Brief Summary

This study aims to understand the impact of living with Klinefelter syndrome (KS) and the factors that contribute to adaptation in adolescents and adults. Individuals with KS may have variable symptoms, including hypogonadism, gynecomastia, learning disabilities, and delay and underdevelopment of secondary sexual characteristics. Perhaps the most challenging symptom of KS is infertility, which seems to be a universal symptom. It is not fully understood how males with KS conceptualize their condition, cope with their diagnosis, and adapt to living with this condition. In this study, Lazarus and Folkman s Transactional Model of Stress and Coping provides a framework for examining coping and adaptation in males with KS. A cross-sectional research design using a quantitative survey will be utilized to examine the relationships among appraisals (illness perceptions and perceived stigma), time elapsed since learning of diagnosis, coping, and adaptation. Adolescents and adults with KS will be recruited from national KS support networks via website postings, email listservs, and printed newsletter postings. Adolescents will also be recruited from a private practice. Participants will have the option to complete an online or paper version of the survey. The main outcome variable is adaptation to living with a KS diagnosis.

Conditions

Klinefelter Syndrome

Keywords

Klinefelter Syndrome; 47,XXY; XXY

Outcome Measures

Primary Outcomes (1)

• Adaptation to Klinefelter. The primary research question is to answer how adolescents and adults adapt to Klinefelter syndrome.

Secondary Outcomes (1)

• Open ended questions will also assess most difficult and best aspects of living with the condition. Follow-up research will be aimed at opportunities for enhancing adaptation.

Eligibility Criteria

• Age: 14 Years - 80 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Must have Klinefelter syndrome (47,XXY) by self-report.
• Must be 14 years or older.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Human Genome Research Institute (NHGRI), 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Abramsky L, Chapple J. 47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenat Diagn. 1997 Apr;17(4):363-8. doi: 10.1002/(sici)1097-0223(199704)17:43.0.co;2-o.

  PMID: 9160389 BACKGROUND

• Biesecker BB, Erby L. Adaptation to living with a genetic condition or risk: a mini-review. Clin Genet. 2008 Nov;74(5):401-7. doi: 10.1111/j.1399-0004.2008.01088.x. Epub 2008 Sep 24.

  PMID: 18823383 BACKGROUND

• Bender BG, Harmon RJ, Linden MG, Robinson A. Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities. Pediatrics. 1995 Aug;96(2 Pt 1):302-8.

  PMID: 7630689 BACKGROUND

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

• Barbara B Biesecker

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: RETROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 8, 2009
• First Posted: May 11, 2009
• Study Start: May 5, 2009
• Study Completion: January 13, 2015
• Last Updated: December 17, 2019

Record last verified: 2015-01-13

Locations

US (1)