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Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome

NCT ID: NCT01703676

Last Updated: 2012-10-15

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-03-31

Study Completion Date

2012-08-31

Brief Summary

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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.

Detailed Description

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Conditions

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Klinefelter Syndrome, Hypogonadism

Keywords

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Hypogonadism, Klinefelter Syndrome, Cardiovascular Risk, Epigenetics, Methylation of Genes Cardiovascular risk factors Gonadal status Gene expression Methylation

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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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

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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

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University Hospital Muenster

OTHER

Sponsor Role lead

Responsible Party

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Zitzmann

Clinical Andrology

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Michael Zitzmann, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

University Hospital Muenster

References

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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

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EpigenMetabDisordKlinefelter

Identifier Type: -

Identifier Source: org_study_id