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Genetic Counseling

Genetic causes of male infertility have been extensively investigated over the past two decades, and great advances in our understanding have been made. This information can help in the diagnosis and in our ability to maximize your reproductive potential.

Genetics relating to male infertility

The Southwest Fertility Center for Men has reached out and found a genetic counselor right here in Albuquerque, New Mexico who can help our couples facing issues of genetics.
Perinatal Associates (Click here to learn more about genetic counseling).

Genetic causes of male infertility have been extensively investigated over the past two decades, and great advances in our understanding have been made. A large number of gene abnormalities have been associated with a man’s diminished reproductive capacity. These differences in DNA can be very important in your male fertility evaluation since certain ones can be passed on to your biologic children. Additionally, this information can help in the diagnosis and in our ability to maximize your reproductive potential.

Y Chromosome Deletions and Male Factor Infertility

The Y chromosome is that “package” of genetic information that determines a man’s maleness. It contains important information that dictates the quantity and quality of sperm made in your testicle. When everything is working as expected, the Y chromosome package is passed on to your biologic sons and is what determines their sex as male.
Azoospermia is when no sperm are found in a man who ejaculates normally. Oligospermia is when very few sperm are found in the ejaculate. Genetic abnormalities in the Y chromosome can be found in these patients where a production problem exists in the sperm factory or testicle.

Specifically, three distinct regions have been mapped to one side of the Y chromosome (Yq) that can be missing or “deleted” in these men. These regions have been called AZFa, AZFb and AZFc (AZF means AZoospermia Factor). The genetic absence or “deletions” within these three regions can be found in up to 20% of these men who have little or no sperm in their ejaculate (Endrocr Rev 2001; 22(2): 226-239).

This information is important because it can help us predict how successful we may be in finding sperm in azoospermic men if we attempt to search for them within the testicles. Moreover, these genetic abnormalities are on the Y chromosome “male package” that will be passed on to your biological sons. This is information that you should know and consider in making your decisions about treatment. To help you with this, genetic counselors can be of great assistance to you.

Male Infertility and Other Genetically Caused Disorders

With the advent of the Human Genome Project and incredible advances in technology, we are learning so much about so many genetic diseases. Male infertility can be associated with some of these conditions, and it is important that you have all the information to help you make the best decisions for you and your partner. See below for a list of some medical conditions that hinder a man’s reproductive potential.

Some of these conditions can be detected through a comprehensive male fertility evaluation (a history, physical examination, semen analyses, and genetic tests if indicated. These conditions can impact a man’s health and the health of a future child. If a genetic defect is detected, a genetic counselor will be offered to the couple so they can make a well-informed decision that is best for them.

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An example of a “Balanced Translocation” where segments of genetic information have been swapped between two chromosomes.

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An example of a man with an extra Y chromosome.

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