Genetic Factors in Male Infertility

Genetic Factors in Male Infertility

Male infertility is a significant health issue that affects nearly 50% of couples. Identifying the causes of male infertility can often be challenging. However, research indicates that a substantial portion of infertility cases can be attributed to genetic factors. The genetic factors involved in male infertility include:

Chromosomal Abnormalities: Chromosomal anomalies are among the leading genetic factors causing infertility. Changes in chromosome number or structure can impact sperm production and function, leading to infertility. For instance, a genetic disorder called Klinefelter syndrome results in a 47, XXY karyotype in males, which can adversely affect sperm production.

Y Chromosome Microdeletions: The Y chromosome is responsible for determining male sex. Certain microdeletions (small missing DNA fragments) on the Y chromosome can affect sperm production and lead to infertility.

Single Gene Mutations: Other genetic factors contributing to male infertility are single gene mutations. For example, mutations in the cystic fibrosis gene can cause structural abnormalities in the male reproductive system and result in infertility.

Genetic Polymorphisms: Genetic polymorphisms refer to natural variations in the DNA sequence. Some genetic polymorphisms can influence sperm production and function, leading to infertility.

Epigenetic Factors: Epigenetic factors are elements that influence gene expression without altering the DNA sequence. Epigenetic mechanisms can interact with environmental factors and lifestyle choices, impacting sperm production and function.

Which Genetic Tests Should Be Conducted for Male Infertility?

The genetic tests performed for male infertility depend on the underlying cause and suspected genetic factors. Here are some genetic tests that can be conducted for male infertility:

Karyotype Analysis: Karyotype analysis examines an individual's chromosomes to detect numerical and structural chromosomal abnormalities. It is used to diagnose conditions like Klinefelter syndrome.

Y Chromosome Microdeletion Test: This test aims to identify microdeletions occurring in genes related to sperm production on the Y chromosome. The presence of Y chromosome microdeletions can be associated with impaired sperm production and infertility.

Cystic Fibrosis (CF) Gene Test: Cystic fibrosis is a genetic disease that can lead to anomalies in the male reproductive system, such as the absence or underdevelopment of the vas deferens (the duct that carries sperm). This test is conducted to detect mutations in the CF gene.

Genetic Mutation Tests Related to Spermatogenesis: Mutations occurring in genes regulating spermatogenesis can disrupt sperm production. Specific genetic tests can be performed to detect mutations in these genes.

Genetic Polymorphism Tests: Specialized tests can be conducted to identify genetic polymorphisms that may affect sperm production and function. These tests aim to detect changes in genes and variants that could be associated with infertility.

Epigenetic Tests: Tests evaluating the impact of epigenetic factors on male infertility examine gene expression and DNA methylation levels.

Is Male Infertility Genetic?

Providing a definitive answer to whether male infertility is genetic or not is challenging due to the complex and multifactorial nature of infertility. However, it is known that a significant portion of male infertility is associated with genetic factors. Nevertheless, in addition to genetic factors, environmental and lifestyle factors can also contribute to male infertility.

How is Genetic Testing Done for Men?

Male genetic testing typically involves a series of tests conducted to determine the causes of male infertility or assess the risk of genetic disorders. The specific tests may vary depending on the individual's circumstances and the doctor's evaluation. Here are the steps typically followed in male genetic testing conducted at our clinic:

Blood sample collection: For genetic tests, a blood sample is usually taken from the patient. This sample is then sent to the laboratory where genetic analyses will be performed.

DNA extraction: In the laboratory, DNA is isolated from the collected blood sample. DNA serves as the genetic material for the genetic tests.

Genetic analysis: The isolated DNA undergoes various genetic analyses depending on the type of test being conducted. These analyses may include chromosome analysis (karyotype), Y chromosome microdeletion test, gene mutation tests, or genetic polymorphism tests.

Evaluation of results: The results of the genetic analyses are evaluated. This evaluation involves correlating the test results with the patient's condition and clinical findings.

Feedback to the patient: The information obtained from the evaluation is used to determine the patient's treatment options and further guidance. Our doctor explains the genetic test results to the patient, including their implications for infertility or the risk of genetic disorders.

About the topic

Frequently asked questions

Genetic factors that play a role in male infertility include chromosomal abnormalities, microdeletions in the azoospermia factor (AZF) region of the Y chromosome, and genetic mutations.

Genetic factors can directly affect sperm production or cause errors in the coding of proteins that are involved in the development and function of the testes.

About the topic

Frequently asked questions

aktenbikem
aktenbikem
USA
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I know Dr. Düzgüner for the past 3 years since he was part of a great IVF team at Memorial Şişli with Dr. Semra Kahraman. I am a Turkish American living in NY, and even with access to private insurance in the US, I have never been able to talk to my IVF doctor on the phone if there was an emergency nor when I had a burning question that needed to be answered immediately. Doctors in the US do not give you their phone number, and I would have to go through the nurse who would call me back 4 hours later only to leave a message.. But in Turkey, with Dr. Düzgüner, everything was about trust and accessibility from the first day. He immediately sent us his number, and set up a FaceTime with me and my husband. He took a deep dive at all our IVF-related blood/semen work and gave us a very factual but encouraging opinion. I was 45 when I left my doctor in the US, and traveled to Turkey to try IVF with Dr. Düzgüner, and despite my old age he was very clear with expectations but never demoralizing nor discouraging. He and his team was always available through phone, text message, and he was never tired of my endless questions! When Dr. Düzgüner later started his clinic, I wanted to continue with him and his team. We discussed other options with him and he worked with me and my husband in researching and giving us endless advice on what our other options could be and worked with us on next steps. With his guidance and patience, we are now expecting twins (36 weeks, a boy and a girl ❤️). Dr Düzgüner helped me become a mommy at age 47, and I am so happy I worked with him all the way to the end. Even during my twin pregnancy back in the US, he would answer my questions within minutes, if l weren’t able to reach my doctor in the US. He and his team deserves all the stars!!
T. B. Beyazıt
T. B. Beyazıt
TR
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The miracle that comes with half a uterus Our teacher Soner, who was instrumental in our miracle Our paths crossed with our teacher as a result of unsuccessful attempts in an external center with half a uterus. Soner always kept our morale high and gave us hope from the first day. With his unique and modern treatment methods, he led us to hold our baby in our arms at the end of a very difficult and careful process. He is an expert in his job and is with the patients 24/7. He is a doctor who pays attention to the smallest details. First, with the permission of Allah and the opportunity of our teacher, it was impossible, we experienced the miracle. We thank our teacher Soner endlessly. Good thing; our paths crossed There is always hope
 Yeliz
Yeliz
UK
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Hayatımda bu kadar zor bir dönemi benim için bu kadar keyifli ve huzurlu bir ekip çalışmasına dönüştüren bir doktorla karşılaşmadım. Ben de yurt dışında çalışan yüksek lisanslı bir hemşireyim. Soner Bey bu zorlu ve stresli tüp bebek tedavisi döneminde karşılaştığım her türlü zorlukta ve mutlulukta benimle birlikte sevinen ya da üzülen bir arkadaş gibi hem çok titiz hem de gerçekten mesleğinde uzman ve hastalarıyla çok ilgili harika bir insan. Onunla çıktığım yolda uzmanlığından hiç şüphe etmedim, ona güvenim hep sonsuzdu ve güzel sonuçlar aldık. Eğer doktorunuza güvenemiyorsanız bu zorlu yola hiç girmeyin derim. Soner Bey tedavi sürecimde çocuk sahibi olabilmem için her detayı titizlikle inceledi ve ben zaten bu kadar titiz ve tecrübeli bir doktordan aldığım tedavi ile sonucun olumlu olacağını biliyordum ve sonunda oldu. Teşekkürler Soner Bey, sizinle bu yolu yürümek gerçekten çok umut verici ve keyifliydi.
E. B. SAHIN
E. B. SAHIN
TR
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I am glad that we met Soner Hoca in this journey we started with severe male factor and chocolate cyst problems. From the very beginning of the process, he made this journey so easy for us with the support of dear Evrim Hanım, whose interest, expertise and experience in her field made this journey so easy for us that people around me could not believe that I was undergoing a whole baby treatment... We trusted my teacher infinitely. Her highly disciplined and professional approach created an infinite trust in me. I never had any question marks in my head. I knew as much as I needed to know and left myself to the process. I am glad I did so... Our 8-year longing for a child ended in our first IVF trial. The people around me did not believe once again because it is absolutely a MIRACLE to reach a positive result in the first attempt, especially in a situation with factors like ours in the IVF adventure... But this miracle became our reality first with the permission of Allah and then with the support of my teacher Soner. We thank him and Mrs. Evrim a thousand times for their efforts <3
T. B. Beyazıt
T. B. Beyazıt
TR
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The miracle that comes with half a uterus Our teacher Soner, who was instrumental in our miracle Our paths crossed with our teacher as a result of unsuccessful attempts in an external center with half a uterus. Soner always kept our morale high and gave us hope from the first day. With his unique and modern treatment methods, he led us to hold our baby in our arms at the end of a very difficult and careful process. He is an expert in his job and is with the patients 24/7. He is a doctor who pays attention to the smallest details. First, with the permission of Allah and the opportunity of our teacher, it was impossible, we experienced the miracle. We thank our teacher Soner endlessly. Good thing; our paths crossed There is always hope
Meleklerin A.
Meleklerin A.
LB
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In the period when we set out with the severe male factor, after a few surgeries performed outside of Turkey (Lebanon), the result was negative every time, and with the joint decision we made with my wife, we decided that we had no other choice but our doctors in Turkey, and thank God that we had the opportunity to meet with our doctor soner Bey, both his knowledge, his sincere approach to the person and his vast experience always made us feel that we were at the right address, On this path that we started treatment with him and the fact that the result was positive after the first trial made us feel that we continued on the road with the right person again, we thank him very much, thank you very much.
Manal Ghazal
Manal Ghazal
AR
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We are very grateful to our doctor who provided us with… We are very grateful to our doctor who provided us with excellent support during the tube treatment process. They are professional, dedicated and extremely compassionate. We really appreciate them for embracing people, supporting them and helping them complete the family. We are so grateful!
Bella
Somalia
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After trying to conceive almost 8 years and 3 failed of IVF circle I have luckily met finally dr Soner DUZGUNER at his clinic 2020 September. After listening and talking each other for an hour and more my hope increased and we started the first circle with PGT test and other health screening, then the first circle was successful. I had beautiful girl and after a year I tried second cycle we used freezing pgt tested embryos and got a boy. The protocols the doctor was very helpful and he gave me special attention and consideration since I had previous failed circles and of course I was foreigner patients. Still I’m his patient and hoping to have more children. Thank you doctor you were very human, kind and understandable doctor.
Parvina Guliyeva
AZ
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Many thanks to Mr. Soner. His care, and his professional behavior, always saying to keep hope, gave me morale. After 5 negative trials in external centers, I am 29 weeks pregnant thanks to Mr. Soner. Thanks to him.
Zeliha
DE
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I'm writing from Germany. I had IVF treatment 3 times in Germany. But the result was always negative. Thanks to Dr. Soner Düzgüner, the pregnancy test was positive for the first time. Dr. Soner Düzgüner is an incredibly excellent doctor and person. Thank God, thanks to Dr. Soner Düzgüner, I am pregnant with twins. Insallah I will give birth in a few weeks. I highly recommend Dr. Soner Düzgüner to apply to Dr. Soner Düzgüner who wants to have a son! Thank you Dr. Bey
Dudz
FR
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Suffering from endometriosis and after three years of unsuccessful IVF in France, I met Dr. Duzguner and his team in Istanbul. He's a very committed doctor, who listens to his patients, smiles, is available, meticulous and very knowledgeable in the field of assisted reproduction. I was lucky enough to get pregnant on my first transfer and have been a mother for a year now. He was quick to identify the problem and put in place the most appropriate treatment for me. To this day, I still keep in touch with this doctor who follows up his patients and I won't hesitate to call on his services for my next transfer. I recommend him with my eyes closed.

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