Male Y chromosome deletion

The male Y chromosome is a chromosome unique to males, which directly determines the gender of the next generation. If there are some problems with the male Y chromosome, some symptoms will often appear. For example, some men may have azoospermia or oligospermia, which often leads to male infertility. Sometimes it is more difficult to treat. In addition, the lack of Y chromosome may also lead to some male diseases.

1. Azoospermia and oligospermia

Patients with asthenozoospermia and unexplained diseases, as well as men with unexplained habitual miscarriage of their spouses, need to undergo a Y chromosome deletion test. Later studies found that for the Azfc deletion, which accounts for the largest proportion, the sperm count of the patient can range from azoospermia to normal. Therefore, a normal sperm count does not necessarily mean that there is no Y chromosome microdeletion. In addition, it was also found that Y chromosome microdeletions were also detected in patients with azoospermia and oligospermia with causes (testicular lesions, obstructive azoospermia, varicocele), patients with chromosomal changes (aneuploidy, deletion, translocation) and patients with normal karyotype but severe phenotype abnormalities.

Regardless of whether the cause of male infertility is unknown or clear, patients must undergo Y chromosome deletion testing, especially when undergoing intracytoplasmic sperm injection and other artificial assisted reproductive treatments. In developed countries in Europe and the United States, Y chromosome microdeletion has become a routine test for male infertility. If a male infertile patient has a Y chromosome microdeletion, general drug treatment is ineffective.

The Y chromosome microdeletion detection product is used to directly detect Y chromosome microdeletions at the genetic and molecular levels, providing a strong diagnostic basis for intracytoplasmic sperm injection and other artificial assisted reproductive technologies. Different site deletions or whether there is a deletion have different treatment methods. The test results will guide doctors on whether to use intracytoplasmic sperm injection technology to assist reproduction; at the same time, it provides a basis for whether to selectively transplant female embryos, because male offspring will inherit the father's infertility defects. For patients, the test only requires a small amount of blood to be drawn, which is very convenient.

Researchers from the University of Tokyo in Japan published their research results on the online version of the Proceedings of the National Academy of Sciences of the United States on November 2, 2011, saying that a protein encoded by the gene on the male Y chromosome acts as a "brake" in the process of testicular cell proliferation. This protein may delay the progression of testicular cancer.

The researchers also found that there was no genetic difference in the Y chromosomes of patients with testicular cancer progression and those without. They speculated that some problem occurred in the synthesis of the "TSPY" protein, leading to the above results.