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Genetic Studies Spermatogenic Failure

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00548977
Recruitment Status : Completed
First Posted : October 25, 2007
Last Update Posted : October 25, 2007
Information provided by:
National Cheng-Kung University Hospital

Brief Summary:

The proposed study is designed to test the following hypotheses:

  1. Mouse autosomal or X-linked genes which are exclusively expressed in mouse spermatogonia are also spermatogonia-specific in human.
  2. Severe spermatogenic defect, especially hypospermatogenesis or SCOS, is caused by an intrinsic defect in germ line stem cell or speramtogenia.
  3. Spermatogonia-specific genes are caudate genes for human spermatogenic defect, especially for hypospermatogenesis or SCOS.
  4. For a significant fraction of cases with severe spermatogenic defect, the sterile genes are transmitted via multifactorial inheritance mode.
  5. For some cases with severe spermatogenic defect, mutations of spermatogonia- specific genes may be transmitted in the X-linked recessive, autosomal recessive, or autosomal dominant mode.

Condition or disease Intervention/treatment
Oligospermia Azoospermia Male Infertility Other: Drawing blood to study genetic polymorphism

Detailed Description:
Between 2% and 12% of couples worldwide are affected by reduced fertility. Men who have defects in sperm production (spermatogenic defect) account for about half of these cases. In Drosophila and mouse, targeted disruptions of numerous sterility- associated genes have been created. Physiological studies in the Drosophila and in mouse also indicate that spermatogenesis is subjected to complex regulation, and male infertility may result from aberrant regulatory events. In the human being, deletions of the Y chromosome account for only 10% of cases with spermatogenic defect, and etiologies of remaining 90% of cases are still unknown. It is evident that multiple genes are involved in male infertility. For cases with severe spermatogenic defect , testicular histology shows either decreased number of germ cells in all developmental stages (hypospermatogenesis) or complete absence of germ cells (Sertoli cell only syndrome or SCOS). It appears that there is an intrinsic defect which causes depletion of germ-line stem cells (spermatogonia) for cases with hypospermatogenesis or SCOS. Of 25 genes exclusively expressed in mouse spermatogonia, 3 are Y-linked, 10 are X-linked, and only 12 are distributed on autosomes.

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Study Type : Observational
Actual Enrollment : 283 participants
Observational Model: Case Control
Time Perspective: Prospective
Study Start Date : January 2001
Actual Study Completion Date : February 2005

Primary Outcome Measures :
  1. Genotype/phenotype correlation of Y-linked AZF candidates and estrogen-related genes [ Time Frame: At the time of visiting OPD ]

Secondary Outcome Measures :
  1. Role of significant candidate genes in human spermatogenesis [ Time Frame: At the time of drawing blood ]

Biospecimen Retention:   Samples With DNA
whole blood

Information from the National Library of Medicine

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Ages Eligible for Study:   14 Years to 60 Years   (Child, Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Patient visited our outpatient clinic

Inclusion Criteria:

  • Men with oligozoospermia(<2*10^7/ml) or azoospermia

Exclusion Criteria:

  • Abnormal karyotypes
  • Obvious genital trauma history
  • Genital hernia
  • Other recognizable causes of male infertility

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00548977

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National Cheng-Kung University Hospital
Tainan, Taiwan
Sponsors and Collaborators
National Cheng-Kung University Hospital
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Study Chair: Paolin Kuo, MD

Layout table for additonal information Identifier: NCT00548977     History of Changes
Other Study ID Numbers: NCKUH-1
First Posted: October 25, 2007    Key Record Dates
Last Update Posted: October 25, 2007
Last Verified: October 2007
Keywords provided by National Cheng-Kung University Hospital:
spermatogenesis defect
male infertility
Y chromosome markers
estrogen gene
Additional relevant MeSH terms:
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Infertility, Male
Genital Diseases, Male
Genital Diseases, Female