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is infertility genetic in males

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How do your genes affect infertility?

The quality and quantity of sperm can be affected by genetics,but it’s not likely. ...Endometriosis and fibroids — which can cause infertility — have multiple causes,one of which could be genetics. ...The age of menopause tends to run in families. ...Polycystic ovarian syndrome can cause fertility problems and is typically a genetic condition. ...More items...

Are your genes causing your infertility?

Unless someone has an overt chromosome abnormality, genetics is rarely the only cause of infertility. However, even if you don’t have any of these genetic conditions, your genes could still affect your fertility. This is because you can have mutations (or variants) in many other genes that impact multiple aspects of your fertility.

Is infertile and infertility the same thing?

The terms sterility and infertility do not have the same meaning, so they are different concepts. It is not the same to say that a person is sterile as a person is infertile. Sterility refers to the inability to have offspring due to problems in fertilization, that is, caused by the impossibility of the egg and sperm coming together to give rise to the embryo.

Can genetics affect fertility?

There is a broad range of different genetic conditions that can lead to infertility, including some chromosomal abnormalities and sex-linked genetic disorders. In some cases, fertility can be negatively affected due to undescended testes in boys or undescended ovaries in girls. In men, Klinefelter syndrome is the most common chromosomal abnormality that causes male infertility. In this syndrome, a male is born with an extra X chromosome, which can lead to decreased fertility in a number of ways.

Why does it matter if infertility has a genetic cause?

However, with ICSI sperm are chosen by laboratory technicians and not by nature and because of this, it is not clear what barriers to natural selection are altered. Thus, along with this technology comes the possibility of passing on to a child certain genetic issues that may have caused the father’s infertility, or even more severe conditions. Another reason to know whether male infertility is genetic or not is because classic treatments such as varicocele repair or medications given to improve male infertility. In fact, Dr Turek was one of the first to publish on this issue, showing that varicocele repair was not effective in improving fertility in men with genetic infertility. Because he recognized these issues early on, Dr. Turek, while at UCSF in 1997, founded the first formal genetic counseling and testing program for infertility in the U.S. Called the Program in the Genetics of Infertility (PROGENI), Dr. Turek’s program has helped over 2000 patients at risk for genetic infertility to navigate the decision-making waters that surround this condition.

What kinds of conditions suggest that the male infertility may be genetic?

Diagnoses that can have genetic causes include men nonobstructive azoospermia (no sperm count), oligospermia (low sperm count), and congenital absence of the vas deferens. A list of some of the best- described causes of genetic male infertility and their frequencies and associated conditions are listed in Table 1.

What does having a Y chromosome microdeletion or a chromosomal abnormality mean for the health of children?

If a man has a chromosome abnormality identified as the cause of infertility, then depending on the chromosome abnormality detected, there may be a higher risk for children to be born with birth defects or mental impairment. This occurs as a result of a child inheriting from the father an imbalance in chromosome material. A genetic counselor can provide more detailed information about such potential risks, and offer other resources for individuals who have been diagnosed with a chromosome abnormality. There may be support organizations available to help men with genetic diagnoses and their partners cope with the impact of this information. Some couples find it helpful to talk to others in similar circumstances.

What is the risk of oligospermia?

Oligospermia that places men at risk for genetic infertility occurs when the ejaculate contains a sperm concentration of <5 million sperm/mL semen. Similar to nonobstructive azoospermia, this is most commonly due to an underlying sperm production problem. With this diagnosis, there is a 2% risk for chromosome abnormalities and 6-8% risk ...

What is nonobstructive azoospermia?

Nonobstructive azoospermia is defined as zero sperm countin the ejaculate due to an underlying sperm production problem within the testicles.

How many CFTR mutations are there?

This is because there are over 1400 described mutations in the CFTR gene and the impact of mutations differs depending on which one is present. In general, the partner of an affected man should be tested as well, so that the residual risk of a child having either congenital absence of the vas deferens or full-blown cystic fibrosis can be estimated.

What was the first scientific study to show that varicocele repair was not effective in improving fertility in men with genetic?

In fact, Dr Turek was one of the first to publish on this issue, showing that varicocele repair was not effective in improving fertility in men with genetic infertility. Because he recognized these issues early on, Dr. Turek, while at UCSF in 1997, founded the first formal genetic counseling and testing program for infertility in the U.S.

What are the physical barriers that block the ability to produce sperm cells?

Physical barriers such as the absence of the vas deferens or small testicles, may also indicate a genetic issue. Spermatogenesis, azoospermia & oligospermia. Spermatogenesis: Disrupts the ability to produce healthy sperm cells. Azoospermia: Blocks the ability to even produce sperm cells. Oligospermia: Defects that result in very poor ...

How many infertility cases are caused by chromosomal translocations?

One study showed that chromosomal translocations cause 2.1% of male infertility cases. The chromosomal translocations do not appear to affect semen volume but do show a much lower than normal sperm concentration. Measurements of testicular volume in men with translocations appear to be lower than in fertile men.

Why is infertility a complex process?

Diagnosing infertility in men due to genetic abnormalities is a complex undertaking due to the wide range of genes involved in the production and transport of healthy sperm . Infertility researchers also are constantly identifying additional genetic anomalies contributing to male infertility.

Where do microdeletions occur on the Y chromosome?

Most microdeletions causing azoospermia or oligospermia occur in the Azoospermia Factor (AZF) region on the long arm of the Y chromosome. Where the microdeletion is detected can influence the approach to possible fertility treatment.

How many types of genetic tests are there?

There are more than 1,000 types of genetic tests, but for male infertility, there are three common types of tests: karyotype, cystic fibrosis gene mutation, and Y chromosome microdeletion.

Where are most deletions causing no sperm or low sperm production?

Most deletions causing no sperm or low sperm production are in the AZF region. The exact location can indicate what treatment a fertility specialist may recommend. Y chromosome microdeletion testing may be suggested before performing ICSI using the sperm of men with nonobstructive azoospermia or very low sperm count.

How do genetic disorders cause infertility?

Genetic disorders cause infertility in men primarily by compromising the production of mature sperm, called spermatogenesis, and its transportation to the egg for fertilization. According to a study published by the National Institutes of Health, genetic disorders cause 2%-8% of male infertility cases. Genetic testing may be recommended ...

What is a low sperm count?

A low sperm count is fewer than 15 million sperm per milliliter of semen or fewer than 39 million per ejaculate. Sperm must be functional and able to move. If the movement (motility) or function of your sperm is abnormal, the sperm may not be able to reach or penetrate your partner's egg.

Why do varicoceles cause infertility?

Although the exact reason that varicoceles cause infertility is unknown, it may be related to abnormal blood flow. Varicoceles lead to reduced sperm quantity and quality. Infection. Some infections can interfere with sperm production or sperm health or can cause scarring that blocks the passage of sperm.

Why do men have infertility?

Male infertility can be caused by low sperm production, abnormal sperm function or blockages that prevent the delivery of sperm. Illnesses, injuries, chronic health problems, lifestyle choices and other factors may contribute to male infertility.

What does it mean when you can't smell?

Inability to smell. Abnormal breast growth (gynecomastia) Decreased facial or body hair or other signs of a chromosomal or hormonal abnormality. A lower than normal sperm count (fewer than 15 million sperm per milliliter of semen or a total sperm count of less than 39 million per ejaculate)

Why do men have problems with fertility?

Medical causes. Problems with male fertility can be caused by a number of health issues and medical treatments: Varicocele. A varicocele is a swelling of the veins that drain the testicle. It's the most common reversible cause of male infertility.

What causes abnormal development of the male reproductive organs?

Chromosome defects. Inherited disorders such as Klinefelter's syndrome — in which a male is born with two X chromosomes and one Y chromosome (instead of one X and one Y) — cause abnormal development of the male reproductive organs. Other genetic syndromes associated with infertility include cystic fibrosis and Kallmann's syndrome.

What causes retrograde ejaculation?

Various health conditions can cause retrograde ejaculation, including diabetes, spinal injuries, medications, and surgery of the bladder, prostate or urethra. Antibodies that attack sperm. Anti-sperm antibodies are immune system cells that mistakenly identify sperm as harmful invaders and attempt to eliminate them.

What is MIK in biology?

MIK was developed to hold information on gene s reported in the literature to be associated with defects leading to male infertility. The PubMed (29) database was iteratively searched by combining gene synonyms with infertility keywords: ‘infertility’, ‘fertility’, ‘male infertility’, ‘azoospermia’, ‘aspermia’ ‘oligozoospermia’, ‘teratozoospermia’, ‘necrozoospermia’, ‘asthenozoospermia’, ‘cryptorchidism’, ‘hypospadias’, ‘sperm defects’ and ‘varicocele’. The literature references retrieved were subjected to manual curation to mine for information on population under study, ethnicity, SNPs reported, associated comorbid conditions, other genes studied, etc. The genes with an associated role in male infertility were divided into two datasets i.e. the validated dataset and the predicted dataset. While the validated dataset includes genes that were retrieved from candidate gene and/or functionally validated studies, the predicted dataset includes genes retrieved from high-throughput studies reported in the paper or analyzed using the GEO2R tool (30).

What is the MIK database?

Here, we present the Male Infertility Knowledgebase (MIK), a resource with compiled information on all reported genetic causes of male infertility mined from the PubMed database. The knowledgebase also includes information on literature-supporting congenital causes of male infertility and data generated by high-throughput technologies. Genes in the knowledgebase have been annotated with information on the known genetic aberrations related to male infertility, functional and pathway information. Disease conditions that share the genetic etiology are also included in this database. The information present in this resource will boost research in the area of genetics of male infertility and will help in the better understanding of the complex genetic etiology of male infertility.

How many genes are in the MIK database?

A comprehensive list of 17?754 genes [validated dataset: 1564 genes; predicted (Highthroughput) dataset: 16?190 genes] with 738 SNPs, 338 distinct pathways, 8152 distinct disease conditions and 17?870 gene ontology terms describing the genes is integrated in MIK. The database has over 292 syndromes that have reported male infertility as a phenotypic manifestation and over 650 chromosomal aberration causing male factor defects leading to infertility. A snapshot of the database schema (Supplementary Figure S2) and the database results page is shown in Figure 1.

How much of the genetic information in the Knowledgebase is related to infertility?

It was observed that around 58% of genes contribute to more than one aberrant reproductive phenotype leading to infertility (Figure 2)

How many groups are there in search infertility?

Search Infertility phenotypes: The data in the validated dataset of MIK have been broadly classified into 21 different groups for efficient search and analysis.

How to identify future high risk disease conditions based on genetic overlap?

The future high-risk disease conditions based on genetic overlap were identified by analyzing the genes shared between the different male infertility phenotype and disease (other than diseases of the reproductive system) information present in MIK.

Why is omics important for infertility?

Common genetic variations resulting in infertility and other high-risk disease conditions need to be investigated further so as to benefit clinicians in appropriate patient management (27, 28). The advent of omics data has paved the way for employing computational methods to integrate, analyze and infer data with high confidence (15). A gene-based database with integrated information is a prerequisite for these computational studies.

How are eggs collected?

When the eggs are ready, they are collected in a minor procedure. Fertilization is accomplished by exposing the eggs to sperm in a culture dish, or by directly injecting a single sperm into each mature egg, a process called intracytoplasmic sperm injection (see above).

Why is there a blockage in the epididymis?

Blockage at the epididymis also can occur due to infection or injury. Whatever the cause, your surgeon will fix the problem by bypassing the blockage in the epididymis. Sperm Retrieval: In some severe cases, a biopsy of the testicle is required to find sperm. Other:

What is infertility in Cleveland Clinic?

Infertility is a problem with your reproductive system that stops you from impregnating a female. If a male and a female have repeated unprotected sex for over a year and the female doesn’t get pregnant then you, she, or both of you may have infertility issues. Cleveland Clinic is a non-profit academic medical center.

What is an unblocked fallopian tube?

Unblocked fallopian tubes that allow the sperm to reach the egg.

How many embryos are placed in the uterus after fertilization?

After fertilization, embryo development is monitored over the next three to five days, and two to three embryos are then placed into the uterus by way of a small catheter inserted through the cervix. In intracytoplasmic sperm injection (ICSI), a single sperm is injected into an egg in a special culture medium.

What are some examples of medical conditions?

Some medical conditions: Examples include diabetes, some autoimmune disorders, cystic fibrosis and some infections.

What is the term for the production of low or poor quality sperm?

Oligospermia: The production of low or poor quality sperm.

Male Infertility: Getting to the root cause

Infertility is formally defined as an inability to become pregnant after 12-months of unprotected sex. There are a number of factors influencing infertility: genetic mutations, environmental exposure, physical abnormalities, and the combination of environmental factors with genetic susceptibility from common variants.

Genetic Variants Linked to Male Infertility

Understanding relative risk. Keep in mind that research studies usually report the increase in risk as relative risk. For example, if the current odds of male infertility are 1 in 20, then a 40% increase in relative risk would increase the odds to about 1 in 12.


Go to the doctor…it is the obvious first step and can help you rule out physical problems affecting sperm production. At-home sperm analysis kits are also available for men who can’t easily get to a doctor (or just won’t go). [ ref] Your doctor can also do hormone testing to make sure everything is balanced.

Related Articles and Genes

Genetics, inflammatory cytokines, and recurrent miscarriage
Learn about how genetic variants in certain inflammatory cytokines can increase or decrease the risk of recurrent miscarriage.

What is the rarest condition in men?

Kallmann syndrome is a rare condition affecting 1 out of every 30,000 males, and causes delayed or absent puberty. Kallman syndrome causes a lack of hormones that direct sexual development, which is why it is most commonly diagnosed during adolescence. Although other symptoms like impaired sense of smell are prevalent in those with Kallmann syndrome, it is delayed puberty that usually alerts a doctor’s attention, provoking testing and diagnosis.

What is the name of the disease that affects the cilia?

Primary Ciliary Dyskinesia (PCD), also sometimes referred to as Kartagener’s syndrome, is a rare inherited disease that impacts the cilia (tiny, hair-like structures) that lines internal airways. As a result, the most common symptoms are chronic respiratory infections, abnormally positioned internal organs, and even infertility.

What is 46 XX?

46 XX is a rare condition in which a person is born with the XX chromosome typically found in females, but is also born with external male genitalia. This condition occurs in 1 out of every 20,000–25,000 newborns assigned male at birth, and is an intersex condition.

What is the most common chromosomal abnormality?

Klinefelter syndrome (KFS) is one of the most common chromosomal abnormalities, and is also known as one of the most common causes of azoospermia. In fact, KFS is found in 11% of cases of azoospermia. In KFS, instead of having the typical XY chromosome pair, a male is born with an extra X chromosome (KFS is sometimes referred to as XXY syndrome). Since this condition doesn’t affect day-to-day life, it’s not uncommon for a male to go undiagnosed for most of his life.

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