An observational study in Azoospermia or Severe Oligozoospermia, sponsored by Reproductive & Genetic Hospital of CITIC-Xiangya. Terminated at 1 site in China. Open to male participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2022-01-26.
Sponsored by Reproductive & Genetic Hospital of CITIC-Xiangya · Observational
In this prospective study, we used Multiplex ligation-dependent probe amplification and next-generation sequencing technology to detect AZF microdeletion types accurately in selected genetic locus, and made correlation analysis with clinical treatment results.
Infertility has plagued more than 10% of the world's couples of childbearing age, of which male factors account for half. There are many causes of male infertility, including infection, genital malformations, immune dysfunction, varicocele, erectile dysfunction, drug side effect and chromosomal abnormality. Microdeletion of Azoospermia factor (AZF) in the long arm of the Y chromosome is one of the main genetic factors leading to dyszoospermia. The incidence of AZF microdeletions is 2%\~19.4% among male infertile patients in Asia, which is related to the inclusion criteria, STS site selection, population and genetic background.
At present, there are large numbers of studies on AZF microdeletions in male infertility, and provide rich information on male infertility. However, as the main means of detection is multiplex PCR-capillary electrophoresis method, which usually detects sequence-tagged sites(STS) such as AZFa-sY84，sY86，AZFb-sY127，sY134，AZFc- sY1191, sY1291, sY1189,sY254 and sY255, information on other loci is still lacking.
In addition, the shortcomings of this method include false positive and false negative results caused by fuzzy electrophoresis strip or pollution and the presence of high repetition and a large number of palindrome in complex AZF region. Because some microdeletions can't be detected it is difficult to make an accurate judgement on the fertility of the patients.
This study will use Multiplex ligation-dependent probe amplification and NGS method to improve the detection rate of AZF microdeletion, and analyze the microdeletion data and the patient's fertility results, so as to improve genetic counseling. A total of 5000 male infertility patients will be enrolled. At least 1000 parents and 1000 normal fertile men will be asked to donate their peripheral blood for DNA.
In addition, in patients with azoospermia or severe oligozoospermia, the overall deletion rate of AZF is about 8.77% (1.75%-24.70%), so there are other unknown genetic factors leading to azoospermia or severe oligozoospermia. This study will also try to make a preliminary study of these factors.
59 studies on the registry are indexed under Azoospermia; 17 are open to participants now.
This study's enrollment of 5,000 is above the median of 95 across 24 observational studies indexed under Azoospermia.
Browse Azoospermia studies →Reproductive & Genetic Hospital of CITIC-Xiangya is the lead sponsor of 26 studies on the registry; 2 are open to participants now.
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Male patients diagnosed with azoospermia and severe oligozoospermia.
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-Male patients diagnosed with azoospermia and severe oligozoospermia.
Exclusion Criteria:
frequency of mirodeletion
The propotion of azoospermia patients with AZF mirodeletion
Time frame: through study completion, an average of 1 year
Ran from Dec 2017 to primary completion in Sep 2021, 44 months.
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This study is terminated, as verified in Feb 2021. You cannot join it, but the record below documents what was studied.
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Reproductive & Genetic Hospital of CITIC-Xiangya