Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome

NCT ID: NCT01703676

Last Updated: 2012-10-15

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 300 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2010-03-31
• Study Completion Date: 2012-08-31

Brief Summary

This study will elucidate how the parental origin of the X-chromosome influences health status as well as metabolic fate in Klinefelter patients. Epigenetics and transcriptome-research will be directly linked to the metabolic and inflammatory pattern of actual patients to improve care for them. The Klinefelter Syndrome is one of the most common genetic disorders in men. The patients have one supernumerary X-chromosome, which is partly active and disturbs a normal male development. Testosterone deficiency in form of primary hypogonadism is a common feature in these men. Such a condition promotes clinically relevant metabolic patterns related to a pro-inflammatory status and diabetes mellitus type 2 (insulin resis-tance), cardiovascular disease as well as infertility. However, the variety of pathologies is pro-nounced between patients and low testosterone concentrations cannot fully explain the wide scope of pathologies in these men. Some patients become clinically obvious during puberty and adoles-cence, some in their thirties or later and all exhibit a huge variation in phenotype. Switching on and off of specific genes on the X-chromosome is differential, depending on the origin either from the maternal or paternal side. Hence, an influence on the clinical picture is hypothesised. Thus, key targets are clarification of the parental origin of the supernumerary X chromosome and elucidation of methylation and expression profile of pivotal X-chromosomal genes. These will be related to clinically relevant metabolic and inflammatory patterns as well as fertility to identify individual risks as well as treatment strategies for Klinefelter patients.

Conditions

Klinefelter Syndrome, Hypogonadism

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

Patients

Klinefelter Patients

No interventions assigned to this group

Parents

Parents of Klinefelter Patients

No interventions assigned to this group

Controls M

Healthy Male Control with normal karyotype

No interventions assigned to this group

Controls F

Healthy female controls

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

Klinefelter Syndrome

Exclusion Criteria

Mosaic status

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 70 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

University Hospital Muenster

OTHER

Sponsor Role: lead

Responsible Party

Zitzmann

Clinical Andrology

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Michael Zitzmann, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

University Hospital Muenster

References

Zitzmann M, Bongers R, Werler S, Bogdanova N, Wistuba J, Kliesch S, Gromoll J, Tuttelmann F. Gene expression patterns in relation to the clinical phenotype in Klinefelter syndrome. J Clin Endocrinol Metab. 2015 Mar;100(3):E518-23. doi: 10.1210/jc.2014-2780. Epub 2014 Dec 22.

Reference Type: DERIVED

PMID: 25532039 (View on PubMed)

Other Identifiers

EpigenMetabDisordKlinefelter

Identifier Type: -

Identifier Source: org_study_id