What is Y chromosome microdeletions?
Y chromosome microdeletions (YCMDs) are the second most common genetic cause of male infertility. Meiotic recombination errors in highly repetitive sequences in the Y chromosome result in microdeletions. Three regions of the Y chromosome appear particularly susceptible to deletion and are termed AZFa, AZFb, and AZFc.
What causes Y chromosome microdeletions?
Y chromosome infertility is caused by deletions of genes in the AZF regions. These deletions remove several genes, or in rare cases, a single gene. Loss of this genetic material likely prevents the production of one or more proteins needed for normal sperm cell development.
How is Y chromosome microdeletion treated?
The aim of the present work was to present the outcomes of the patients with Y-chromosome microdeletions treated by intracytoplasmic sperm injection (ICSI), either using fresh (TESE) or frozen-thawed (TESE-C) testicular sperm and ejaculated sperm (EJAC).
How common is Y chromosome deletion?
Prevalence. The prevalence of Y chromosome deletions and microdeletions is estimated at 1:2,000 to 1:3,000 males [de Vries et al 2002; de Vries et al, personal communication]. The frequency of Yq microdeletions in males with azoospermia or severe oligozoospermia is about 5% [Kim et al 2017].
What is Y microdeletion test?
Y chromosome microdeletion test helps in identifying the missing genes in the Y chromosome which might be prevalent in Azoospermic men. This test helps in identifying one of the major disorders that might cause infertility in a man.
Can you test sperm for Y chromosome?
Y-Chromosome Microdeletions (YCMD) There is a genetic test that can be done to determine whether your Y chromosome contains all the critical genetic elements necessary to make sperm. This is important because there are some genetic mutations of the Y chromosome that are not compatible with producing sperm.
What does a microdeletion remove?
Throughout your life, your cells replicate by dividing — and in the process, your body chops up these DNA strands to make them more manageable to use. But once in a while, a tiny bit of a chromosome is removed during this process, resulting in a microdeletion.
What are Y chromosome microdeletions?
Y chromosome microdeletions (YCMDs) are the second most common genetic cause of male infertility. Meiotic recombination errors in highly repetitive sequences in the Y chromosome result in microdeletions. Three regions of the Y chromosome appear particularly susceptible to deletion and are termed AZFa, AZFb, and AZFc.
Is the mechanism of mutation different for Y-chromosome microdeletion?
The mechanism of mutation is not different for Y-chromosome microdeletion. However, the ability to repair it differs from other chromosomes.
What is the relationship between sperm count and Y-chromosome microdeletion?
Men with reduced sperm production (in up to 20% of men with reduced sperm count, some form of YCM has been detected) varies from oligozoospermia, significant lack of sperm, or azoospermia, complete lack of sperm. The mechanism of mutation is not different for Y-chromosome microdeletion.
Is Y chromosome azoospermia factor region microdeletion associated with recurrent spontaneous abortion?
Pereza N, Crnjar K, Buretic-Tomljanovic A, et al. Y chromosome azoospermia factor region microdeletions are not associated with idiopathic recurrent spontaneous abortion in a Slovenian population: association study and literature review. Fertil Steril2013;99:1663-7. 10.1016/j.fertnstert.2013.01.101 [PubMed] [CrossRef] [Google Scholar]