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Y Chromosome Infertility

Table of Contents

Y Chromosome Infertility

Male Sterility due to Y-Chromosome Deletions; Spermatogenic Failure (Y-Linked); Y Chromosome-Related Azoospermia

Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. Learn more.

Human chromosome Y

Image by United States Department of Energy

About

Sperm and Ovum

Image by TheVisualMD

Sperm and Ovum

Sperm and Ovum

Image by TheVisualMD

What Is Y Chromosome Infertility?

Y chromosome infertility is a condition that affects the production of sperm and causes male infertility, which means it is difficult or impossible for affected men to father children. An affected man's body may produce no mature sperm cells (azoospermia), fewer than the usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. Men with Y chromosome infertility do not have any other signs or symptoms related to the condition.

Some men with Y chromosome infertility who have mild to moderate oligospermia may eventually father a child naturally. Men with oligospermia may also be helped with assisted reproductive technologies; most men with Y chromosome infertility have some sperm cells in the testes that can be extracted for this purpose.

Source: MedlinePlus Genetics

Additional Materials (9)

The diagram shows a simple description of a human spermatozoon.

The diagram shows a simple description of a human spermatozoon.

Image by Mariana Ruiz

Complete diagram of a human spermatozoa

Complete diagram of a human spermatozoa

Image by Mariana Ruiz Villarreal spermatozoa

Semen Contents in Glass Vial: Semen is mostly composed of seminal fluid (60%) and prostatic fluid (30%). The remainder is composed of sperm (5%) and bulbourethral fluid (5%).

Semen Contents in Glass Vial: Semen is mostly composed of seminal fluid (60%) and prostatic fluid (30%). The remainder is composed of sperm (5%) and bulbourethral fluid (5%).

Image by TheVisualMD

Sperm

The process of spermatogenesis as the cells progress from spermatogium, to primary spermatocytes, to secondary spermatocytes, to spermatids and to Sperm.

Image by OpenStax College

Visualization depicting the development and maturation of sperm

Visualization depicting the development and maturation of sperm. The development of sperm occurs in two phases, spermatogenesis and spermiogenesis. Spermatogenesis , the production of male gametes, and spermiogenesis, the subsequent development of the male gamete into motile spermatozoon, both occur in the seminiferous tubules located in the testes. The tip of the sperm, the acrosome is clearly visible.

Image by TheVisualMD

Why Y Chromosomes Won’t Be Around Forever

Video by SciShow/YouTube

Is the Y Chromosome Disappearing?

Video by SciShow/YouTube

How Genetics Affects Infertility

Video by National Society of Genetic Counselors/YouTube

An Approach to Male Infertility

Video by Strong Medicine/YouTube

The diagram shows a simple description of a human spermatozoon.

Mariana Ruiz

Complete diagram of a human spermatozoa

Mariana Ruiz Villarreal spermatozoa

Semen Contents in Glass Vial: Semen is mostly composed of seminal fluid (60%) and prostatic fluid (30%). The remainder is composed of sperm (5%) and bulbourethral fluid (5%).

TheVisualMD

Sperm

OpenStax College

Visualization depicting the development and maturation of sperm

TheVisualMD

12:06

Why Y Chromosomes Won’t Be Around Forever

SciShow/YouTube

2:56

Is the Y Chromosome Disappearing?

SciShow/YouTube

47:26

How Genetics Affects Infertility

National Society of Genetic Counselors/YouTube

20:34

An Approach to Male Infertility

Strong Medicine/YouTube

Causes

Human Y chromosome

Image by TheVisualMD

Human Y chromosome

Medical visualization of a human Y chromosome. The human Y chromosome is one of the 2 chromosomes that determine a person's genetic sex. All human eggs contain a single X chromosome from the mother which will be passed on to her offspring. A sperm also contains a single chromosome from the father which will be passed on to his offspring, but it can be either and X or a Y chromosome. Therefore, it is the genetic contribution from the father that will determine whether the child is a boy (XY) or a girl (XX).

Image by TheVisualMD

What Causes Y Chromosome Infertility?

As its name suggests, this form of infertility is caused by changes in the Y chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, called X and Y. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY).

Many genes on the Y chromosome are involved in male sex determination and development. In particular, genes in areas of the Y chromosome called azoospermia factor (AZF) regions provide instructions for making proteins that are involved in sperm cell production and development, although the specific functions of these proteins are not well understood.

Y chromosome infertility is caused by deletions of genes in the AZF regions. These deletions remove several genes, or in rare cases, a single gene. Loss of this genetic material likely prevents the production of one or more proteins needed for normal sperm cell development. As a result, either few sperm develop or sperm do not develop at all, leading to Y chromosome infertility.

Source: MedlinePlus Genetics

Additional Materials (4)

Y Chromosome

The Y Chromosome

Image by Christinelmiller/Wikimedia

X and Y chromosomes

The X and Y chromosomes, also known as the sex chromosomes, determine the biological sex of an individual.

Image by Jonathan Bailey, NHGRI

Y chromosome

The Human Y Chromosome showing the SRY gene which codes for a protein regulating sexual differentiation.

Image by Je_at_uwo/Wikimedia

Y chromosome

The ability to sequence the Y chromosome, a relatively recent development in the field of genomics research, is discussed in two papers published in the August 2, 2013 issue of Science. The male-specific portion of the Y chromosome, a region of the DNA strand that does not normally exchange base pairs with the nearby X chromosome, is "a powerful tool with which to study human history" and determine when the most common male ancestors existed.

Image by Jonathan Bailey, NHGRI

Y Chromosome

Christinelmiller/Wikimedia

X and Y chromosomes

Jonathan Bailey, NHGRI

Y chromosome

Je_at_uwo/Wikimedia

Y chromosome

Jonathan Bailey, NHGRI

What Is Y Chromosome?

Y Chromosome

Image by National Human Genome Research Institute (NHGRI)

Y Chromosome

The Y chromosome of all living men is related through a single male ancestor who lived over 100,000 years ago.

Image by National Human Genome Research Institute (NHGRI)

What Is Y Chromosome?

The Y chromosome is one of the two sex chromosomes in humans (the other is the X chromosome). The sex chromosomes form one of the 23 pairs of human chromosomes in each cell. The Y chromosome spans more than 59 million building blocks of DNA (base pairs) and represents almost 2 percent of the total DNA in cells.

Each person normally has one pair of sex chromosomes in each cell. The Y chromosome is present in males, who have one X and one Y chromosome, while females have two X chromosomes.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. The Y chromosome likely contains 70 to 200 genes that provide instructions for making proteins. Because only males have the Y chromosome, the genes on this chromosome tend to be involved in male sex determination and development. Sex is determined by the SRY gene, which is responsible for the development of a fetus into a male. Other genes on the Y chromosome are important for enabling men to father biological children (male fertility).

Many genes are unique to the Y chromosome, but genes in areas known as pseudoautosomal regions are present on both sex chromosomes. As a result, men and women each have two functional copies of these genes. Many genes in the pseudoautosomal regions are essential for normal development.

Source: MedlinePlus Genetics

Additional Materials (7)

Human chromosome Y

Ideogram of human chromosome Y. Selected genes, traits, and disorders associated with the chromosome listed.

Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science

Y chromosome

The Human Y Chromosome showing the SRY gene which codes for a protein regulating sexual differentiation.

Image by Je_at_uwo/Wikimedia

Y Chromosome

The Y Chromosome

Image by Christinelmiller/Wikimedia

The Science of Men

Video by SciShow/YouTube

X and Y chromosomes explained

Video by MooMooMath and Science/YouTube

Male Infertility: Your Guide to Y Chromosome Microdeletions

Video by Flannigan Fertility/YouTube

Sex determination by the Y chromosome

Video by Genetics/YouTube

Human chromosome Y

Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science

Y chromosome

Je_at_uwo/Wikimedia

Y Chromosome

Christinelmiller/Wikimedia

5:21

The Science of Men

SciShow/YouTube

2:25

X and Y chromosomes explained

MooMooMath and Science/YouTube

8:26

Male Infertility: Your Guide to Y Chromosome Microdeletions

Flannigan Fertility/YouTube

5:53

Sex determination by the Y chromosome

Genetics/YouTube

Inheritance

Human Genome - Infant and DNA

Image by TheVisualMD

Human Genome - Infant and DNA

Human Genome - Inheritance

Image by TheVisualMD

How Is Y Chromosome Infertility Inherited?

Because Y chromosome infertility impedes the ability to father children, this condition is usually not inherited. Most cases of this condition result from new (de novo) deletions on the Y chromosome that occur during formation of sperm cells in an affected individual's father who is not himself infertile. These cases occur in men with no history of the disorder in their family.

When men with Y chromosome infertility do father children, either naturally or with the aid of assisted reproductive technologies, they pass the genetic changes on the Y chromosome to all their sons. As a result, the sons will also have Y chromosome infertility. This form of inheritance is called Y-linked. Daughters do not inherit the Y chromosome and are not affected.

Source: MedlinePlus Genetics

Diagnosis

Y Deletion Analysis

Also called: AZF Testing

All males are born with an X chromosome and a Y chromosome. The genes associated with normal spermatogenesis (sperm production) are located on the Y chromosome. Therefore, the presence of Y deletions is associated with male infertility.

Y Deletion Analysis

Also called: AZF Testing

All males are born with an X chromosome and a Y chromosome. The genes associated with normal spermatogenesis (sperm production) are located on the Y chromosome. Therefore, the presence of Y deletions is associated with male infertility.

{"label":"Y Deletion Analysis Reference Range","scale":"lin","step":0.25,"hideunits":true,"items":[{"flag":"negative","label":{"short":"Negative","long":"Negative","orientation":"horizontal"},"values":{"min":0,"max":1},"text":"A negative result means that you don\u2019t have Y deletions. Nevertheless, this does not rule out other possible genetic or nongenetic causes of male infertility.","conditions":[]},{"flag":"positive","label":{"short":"Positive","long":"Positive","orientation":"horizontal"},"values":{"min":1,"max":2},"text":"This means that your result is positive for Y deletions. Deletions of the AZFc region are associated with oligospermia, while deletions of the AZFa and AZFb regions are associated with azoospermia. ","conditions":["Y deletion","Infertility","Oligospermia","Azoospermia","Sertoli cell-only syndrome"]}],"value":0.5}[{"negative":0},{"positive":0}]
Use the slider below to see how your results affect your health.
Your result is Negative.
A negative result means that you don’t have Y deletions. Nevertheless, this does not rule out other possible genetic or nongenetic causes of male infertility.
Related conditions
1. YMCRO - Clinical: Y Chromosome Microdeletions, Molecular Detection [accessed on Jan 03, 2019]
2. 512053: Infertility−Male, Y Deletion Analysis | LabCorp [accessed on Jan 03, 2019]
3. Prognostic value of Y deletion analysis | Human Reproduction | Oxford Academic [accessed on Jan 03, 2019]
4. https://jmg.bmj.com/content/40/1/18 [accessed on Jan 03, 2019]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (1)

Is the Y Chromosome Disappearing?

Video by SciShow/YouTube

2:56

Is the Y Chromosome Disappearing?

SciShow/YouTube

Statistics

Illustration of rare disease incidence

Image by mcmurryjulie/Pixabay

Illustration of rare disease incidence

Image by mcmurryjulie/Pixabay

How Common Is Y Chromosome Infertility?

Y chromosome infertility occurs in approximately 1 in 2,000 to 1 in 3,000 males of all ethnic groups. This condition accounts for about 13 percent of cases of azoospermia and 5 percent of severe oligospermia.

Source: MedlinePlus Genetics

Related HealthJournals

Genetic Testing

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Over 2000 tests are available. Genetic testing may be done for many reasons, from newborn baby screening to diagnosing certain diseases. Read about why you might consider testing.

Y Chromosome

The Y chromosome is one of the two sex chromosomes that are involved in sex determination (the other is the X chromosome). The Y chromosome is present in males, who have one X and one Y chromosome, while females have two X chromosomes. Read more about the Y chromosome and its role in human health.

Male Infertility

Infertility is generally defined as not being able to get pregnant after 1 year of unprotected sex. Read about the causes of male infertility, how it is diagnosed, and treatment options available.

Infertility

"Infertility" is a term that describes when a couple is unable to achieve pregnancy after a year of trying or keeps having miscarriages. Read about infertility, its causes, and treatments.

Sperm

Sperm are the male reproductive cells created in the testicles. The head of the sperm contains DNA, which when combined with the DNA in a women's egg, will create a new individual. Learn more about sperm and its role in reproduction.

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Y Chromosome Infertility

Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. Learn more.

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