Genetic Studies Spermatogenic Failure

Male Infertility Clinical Trial

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00548977
• Other study ID #: NCKUH-1
• Status: Completed
• Phase: N/A
• First received: October 24, 2007
• Last updated: October 24, 2007
• Start date: January 2001
• Est. completion date: February 2005

Study information

• Verified date: October 2007
• Source: National Cheng-Kung University Hospital
• Contact: n/a
• Is FDA regulated: No
• Health authority: Taiwan: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 283
• Est. completion date: February 2005
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Male
• Age group: 14 Years to 60 Years

Eligibility

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

Study Design

Observational Model: Case Control, Time Perspective: Prospective

Related Conditions & MeSH terms

• Azoospermia
• Infertility
• Infertility, Male
• Male Infertility
• Oligospermia

Intervention

Other:
• Drawing blood to study genetic polymorphism

Locations

Country	Name	City	State
Taiwan	National Cheng-Kung University Hospital	Tainan

Sponsors (1)

Lead Sponsor	Collaborator
National Cheng-Kung University Hospital

Country where clinical trial is conducted

Taiwan, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genotype/phenotype correlation of Y-linked AZF candidates and estrogen-related genes		At the time of visiting OPD
Secondary	Role of significant candidate genes in human spermatogenesis		At the time of drawing blood