Y chromosome and male infertility

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Y chromosome also known as the sex chromosome is the chromosome that results in the birth of a baby boy but changes in this chromosome are the topic of concern as they can cause many problems in the child. Many genes that are required for the development of the male sex are present on the Y chromosome.

Azoospermia factor (AZF) regions that provide instructions to the male body for the production of proteins that are involved in sperm cell production and development are present on the Y chromosomes which means any changes in these single chromosomes can cause infertility in males.

Such a condition is called Y chromosome infertility and is caused by the deletion of several genes or in the rare condition a single gene. Loss of these genes means the body does not get the instructions to produce proteins that are needed for normal sperm development and in some cases, sperm doesn’t develop at all leading to Y chromosome infertility.

Y chromosome

What are the test available to diagnose this condition?

The most common genetic test related to male infertility are given below:

CFTR gene mutations: CFTR which stands for Cystic Fibrosis Transmembrane Conductance Regulator gene mutations is a test done to check whether a male carries the abnormal copy of the gene that causes cystic fibrosis. This test is done because men who are the carrier of cystic fibrosis can pass it down to their children.

Karyotype genetic testing: this test checks for any missing chromosomes that can cause a problem with sperm production. For example presence of an extra X chromosome causes Klinefelter Syndrome.

Y-Chromosome Microdeletions (YCMD): this test determines whether the Y chromosome contains all necessary genetic elements needed for sperm development or not.

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