Dataset Information
Human male infertility and its genetic causes.
Ontology highlight
ABSTRACT: Background
Infertility affects about 15% of couples who wish to have children and half of these cases are associated with male factors. Genetic causes of azoospermia include chromosomal abnormalities, Y chromosome microdeletions, and specific mutations/deletions of several Y chromosome genes. Many researchers have analyzed genes in the AZF region on the Y chromosome; however, in 2003 the SYCP3 gene on chromosome 12 (12q23) was identified as causing azoospermia by meiotic arrest through a point mutation.Methods
We mainly describe the SYCP3 and PLK4 genes that we have studied in our laboratory, and add comments on other genes associated with human male infertility.Results
Up to now, The 17 genes causing male infertility by their mutation have been reported in human.Conclusions
Infertility caused by nonobstructive azoospermia (NOA) is very important in the field of assisted reproductive technology. Even with the aid of chromosomal analysis, ultrasonography of the testis, and detailed endocrinology, only MD-TESE can confirm the presence of immature spermatozoa in the testes. We strongly hope that these studies help clinics avoid ineffective MD-TESE procedures.
SUBMITTER: Miyamoto T
PROVIDER: S-EPMC5661822 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Publications
Human male infertility and its genetic causes.
Reproductive medicine and biology 20170326 2
<h4>Background</h4>Infertility affects about 15% of couples who wish to have children and half of these cases are associated with male factors. Genetic causes of azoospermia include chromosomal abnormalities, Y chromosome microdeletions, and specific mutations/deletions of several Y chromosome genes. Many researchers have analyzed genes in the AZF region on the Y chromosome; however, in 2003 the <i>SYCP3</i> gene on chromosome 12 (12q23) was identified as causing azoospermia by meiotic arrest th ...[more]
