Genetic Studies Spermatogenic Failure

Sponsor

National Cheng-Kung University Hospital (Other)

Overall Status

Completed

CT.gov ID

NCT00548977

Collaborator

(none)

283

Enrollment

Location

Duration (Months)

5.8

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The proposed study is designed to test the following hypotheses:

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

Study Design

Study Type:

Observational

Actual Enrollment :

283 participants

Observational Model:

Case-Control

Time Perspective:

Prospective

Study Start Date :

Jan 1, 2001

Actual Study Completion Date :

Feb 1, 2005

Outcome Measures

Primary Outcome Measures

Genotype/phenotype correlation of Y-linked AZF candidates and estrogen-related genes [At the time of visiting OPD]

Secondary Outcome Measures

Role of significant candidate genes in human spermatogenesis [At the time of drawing blood]

Eligibility Criteria

Criteria

Ages Eligible for Study:

14 Years to 60 Years

Sexes Eligible for Study:

Male

Accepts Healthy Volunteers:

Yes

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	National Cheng-Kung University Hospital	Tainan		Taiwan

Sponsors and Collaborators

National Cheng-Kung University Hospital

Investigators

Study Chair: Paolin Kuo, MD,

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

, ,

ClinicalTrials.gov Identifier:

NCT00548977

Other Study ID Numbers:

NCKUH-1

First Posted:

Oct 25, 2007

Last Update Posted:

Oct 25, 2007

Last Verified:

Oct 1, 2007

Keywords provided by , ,

spermatogenesis defect

Additional relevant MeSH terms:

Study Results

No Results Posted as of Oct 25, 2007