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

Sponsor

University Hospital Muenster (Other)

Overall Status

Completed

CT.gov ID

NCT01703676

Collaborator

(none)

300

Enrollment

Duration (Months)

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Klinefelter Syndrome, Hypogonadism

Study Design

Study Type:

Observational

Actual Enrollment :

300 participants

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?

Study Start Date :

Mar 1, 2010

Actual Primary Completion Date :

May 1, 2012

Actual Study Completion Date :

Aug 1, 2012

Arms and Interventions

Arm	Intervention/Treatment
Patients Klinefelter Patients
Parents Parents of Klinefelter Patients
Controls M Healthy Male Control with normal karyotype
Controls F Healthy female controls