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Scientists discover: How do genes affect male fertility?
Male infertility is a complex problem that affects approximately 1% of men and is a significant factor in many cases of infertility. Recent studies by scientists have shown that genes may play a central role in male fertility, especially in certain pathological conditions such as azoospermia. Azoospermia refers to the complete absence of sperm in a man's semen. This condition can be divided into three types: pre-testicular, testicular and post-testicular, each of which has its own unique causes and background.
Many cases of azoospermia are treatable, especially anterior and posterior testicular azoospermia, which are often related to endocrine disorders or physical obstructions in the reproductive tract.
Pre-testicular azoospermia usually involves problems with the endocrine system, such as pituitary insufficiency and low levels of follicle-stimulating hormone (FSH) in the blood. This suggests that even if the testicles themselves are normal, they are unable to produce sperm due to a lack of hormonal stimulation. Such conditions may be affected by medications, chemotherapy, or various health problems.
In contrast, testicular azoospermia is a more serious condition and usually means that there are structural abnormalities inside the testicles that prevent sperm from being produced normally. According to research, men with this condition may account for 49% to 93% of men with azoospermia. There are many causes of testicular dysfunction, including congenital diseases such as Keline Felter syndrome and acquired factors such as infection or trauma.
Another type of azoospermia is post-testicular azoospermia, which means that although sperm are produced, they cannot be discharged due to physical obstruction. This accounts for 7% to 51% of men with azoospermia.
Researchers have found that genes have a considerable influence on the formation and manifestation of azoospermia. Abnormalities from different genes may cause pretesticular, testicular, or posttesticular azoospermia. For example, different genetic variants may lead to defects in sperm production, and these defects often appear in a specific region of the Y chromosome, which is called the azoospermia factor (AZF).
It is noteworthy that genetic mutations associated with male infertility, such as polymorphisms of BRCA2 and other elastic genes, have been linked to azoospermia or oligospermia. These findings further support the important role that genetics plays in male reproductive health.
During the diagnostic process, two semen tests are usually performed and further evaluation is performed based on history, physical examination, and potential genetic factors.
The process of diagnosing azoospermia involves a careful history review, examination of the health of the reproductive system, and possible imaging tests such as ultrasound. Understanding the patient's past health history, especially exposure to medications and environmental factors, is crucial to determining the cause of azoospermia.
The treatment methods for different types of azoospermia are also different. For correctable anterior and posterior testicular azoospermia, treatment of the endocrine problem or surgical removal of the obstruction can effectively restore fertility. As for testicular azoospermia, current medical technologies such as in vitro fertilization (IVF) combined with intracytoplasmic sperm injection (ICSI) can help to some extent if sperm can be successfully extracted from the testicles.
All of these findings suggest that male infertility is a multifactorial health issue whose causes highlight the strong link between genes and fertility. With the advancement of science and technology, we may have deeper breakthroughs and insights into our understanding of male fertility in the future, which will promote the birth of more effective treatment options.
After summarizing the above research results and observations, we can't help but ask, how can we further understand the relationship between genes and male fertility, so as to more effectively deal with the increasing number of male infertility problems?
