Genetic mutations contributing to non-obstructive azoospermia
| Autor: | Taylor P. Kohn, Vanessa N. Peña, Amin S. Herati |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Infertility
Male endocrine system Mild androgen insensitivity syndrome Kallmann syndrome Y chromosome microdeletion Endocrinology Diabetes and Metabolism Population Sex Chromosome Disorders of Sex Development urologic and male genital diseases Bioinformatics Male infertility Diagnosis Differential Endocrinology Klinefelter Syndrome medicine Humans Genetic Predisposition to Disease Genetic Testing education Infertility Male Sex Chromosome Aberrations Azoospermia education.field_of_study Chromosomes Human Y urogenital system business.industry Androgen-Insensitivity Syndrome medicine.disease Spermatozoa Mutation Klinefelter syndrome Chromosome Deletion business |
| Zdroj: | Best practiceresearch. Clinical endocrinologymetabolism. 34(6) |
| ISSN: | 1878-1594 |
| Popis: | Non-obstructive azoospermia is a distinct diagnosis within male infertility in which no sperm is found in the ejaculate as a result of spermatogenesis failure. Because of the increased prevalence of genetic abnormalities in men with non-obstructive azoospermia, male infertility guidelines recommend screening for karyotype abnormalities and Y chromosome microdeletions in this population. Numerous karyotype abnormalities may be present resulting in impaired spermatogenesis, including: Klinefelter syndrome, translocations, and deletions. Y chromosome microdeletions of the AZFa, AZFb, AZFc subregions all can also result in non-obstructive azoospermia with the possibility of sperm being present if only the AZFc subregion is deleted. While these are the two genetic tests recommended by the guidelines, nearly 50%-80% of non-obstructive azoospermia has no identifiable cause and is deemed idiopathic. Several other genetic defects can lead to non-obstructive azoospermia including Kallmann syndrome, mild androgen insensitivity syndrome, and TEX11. While many additional candidate genes have been proposed, many have yet to be verified or are so infrequent in the population that screening is cost-ineffective. Much research is still required in the genetics of non-obstructive azoospermia and will require multi-institutional initiatives to better understand the genetics of condition. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect