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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

Tracking Information
First Submitted Date October 24, 2007
First Posted Date October 25, 2007
Last Update Posted Date October 25, 2007
Study Start Date January 2001
Primary Completion Date Not Provided
Current Primary Outcome Measures
 (submitted: October 24, 2007)
Genotype/phenotype correlation of Y-linked AZF candidates and estrogen-related genes [ Time Frame: At the time of visiting OPD ]
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures
 (submitted: October 24, 2007)
Role of significant candidate genes in human spermatogenesis [ Time Frame: At the time of drawing blood ]
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Genetic Studies Spermatogenic Failure
Official Title Not Provided
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.
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.
Study Type Observational
Study Design Observational Model: Case Control
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
whole blood
Sampling Method Probability Sample
Study Population Patient visited our outpatient clinic
  • Oligospermia
  • Azoospermia
  • Male Infertility
Intervention Other: Drawing blood to study genetic polymorphism
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: October 24, 2007)
Original Actual Enrollment Same as current
Actual Study Completion Date February 2005
Primary Completion Date Not Provided
Eligibility Criteria

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
Sexes Eligible for Study: Male
Ages 14 Years to 60 Years   (Child, Adult)
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Taiwan
Removed Location Countries  
Administrative Information
NCT Number NCT00548977
Other Study ID Numbers NCKUH-1
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Not Provided
Study Sponsor National Cheng-Kung University Hospital
Collaborators Not Provided
Study Chair: Paolin Kuo, MD
PRS Account National Cheng-Kung University Hospital
Verification Date October 2007