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Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome (IZKF-CRA03-09)

This study has been completed.
Information provided by (Responsible Party):
Zitzmann, University Hospital Muenster Identifier:
First received: October 5, 2012
Last updated: October 12, 2012
Last verified: October 2012
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.

Klinefelter Syndrome, Hypogonadism

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Klinefelter Syndrome: Do the Parental Origin and Epigenetic Profile of the Supernumerary X Chromosome Determine Phenotype, Morbidity, Inflammatory Status and Cardiovascular Risk?

Resource links provided by NLM:

Further study details as provided by Zitzmann, University Hospital Muenster:

Biospecimen Retention:   Samples With DNA
Blood, Testicular Tissue, Mouth Epithelium

Enrollment: 300
Study Start Date: March 2010
Study Completion Date: August 2012
Primary Completion Date: May 2012 (Final data collection date for primary outcome measure)
Klinefelter Patients
Parents of Klinefelter Patients
Controls M
Healthy Male Control with normal karyotype
Controls F
Healthy female controls


Ages Eligible for Study:   18 Years to 70 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Patients, their parents, male controls, female controls

Inclusion Criteria:

Klinefelter Syndrome

Exclusion Criteria:

Mosaic status

  Contacts and Locations
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Please refer to this study by its identifier: NCT01703676

Sponsors and Collaborators
University Hospital Muenster
Principal Investigator: Michael Zitzmann, MD, PhD University Hospital Muenster
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Zitzmann, Clinical Andrology, University Hospital Muenster Identifier: NCT01703676     History of Changes
Other Study ID Numbers: EpigenMetabDisordKlinefelter
Study First Received: October 5, 2012
Last Updated: October 12, 2012

Keywords provided by Zitzmann, University Hospital Muenster:
Hypogonadism, Klinefelter Syndrome, Cardiovascular Risk, Epigenetics, Methylation of Genes
Cardiovascular risk factors
Gonadal status
Gene expression

Additional relevant MeSH terms:
Klinefelter Syndrome
Pathologic Processes
Gonadal Disorders
Endocrine System Diseases
Sex Chromosome Disorders of Sex Development
Disorders of Sex Development
Urogenital Abnormalities
Sex Chromosome Disorders
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn processed this record on September 21, 2017