Y-chromosomal Microdeletions (YCMD)

Y chromosome infertility is a common genetic condition that affects male fertility, occurring in approximately 1 in 2,000 to 1 in 3,000 males of all ethnic groups. It accounts for about 13 percent of azoospermia (absence of motile sperm in semen) and 5 percent of severe oligospermia (low  sperm count) cases. Y-chromosome microdeletions, a specific type of genetic mutation, are known to cause this condition.¹

Let's explore its effects on male fertility in more detail!

What Are Y-chromosome Microdeletions?

The Y chromosome plays a crucial role in male fertility, as it contains various genes, such as SRY (Sex-determining Region Y), SOX9 (SRY-Box Transcription Factor 9), etc., responsible for the development of the testes and the production of sperm. However, even a small portion of the Y chromosome missing can have significant consequences, such as reduced sperm production or a complete absence of sperm in the semen, leading to infertility. This condition is known as Y-chromosome microdeletion.²

Types Of Y-chromosome Microdeletions

Y chromosome infertility can manifest in different ways, such as a low sperm count, poor sperm motility, or a complete absence of sperm in semen (azoospermia). Y-chromosome microdeletions are categorized into three types, each of which is linked to a specific fertility problem:²

1. AZFc deletion²

The most common type of Y-chromosome microdeletion, it occurs in a region of the Y chromosome containing genes important for sperm production. Men with this deletion may have reduced sperm counts or produce no sperm at all.

2. AZFb deletion²

This deletion occurs in a region of the Y chromosome that is also essential for sperm production. Men with this deletion may also have reduced sperm counts or produce no sperm at all.

3. AZFa deletion²

This deletion occurs in a region of the Y chromosome containing genes vital for testicular development. Men with this deletion may have small testes and reduced sperm counts, or they may produce no sperm at all.

Diagnosing Y Chromosome Infertility

Diagnosing Y chromosome infertility requires specialized genetic testing.² A doctor may suspect a Y-chromosome microdeletion if a man has a low sperm count or no sperm in his semen. A genetic testing is a great way to confirm the presence of a microdeletion and determine its type & severity. 

And that's where the LifeCell's Infergenes Male Panel comes in! This at-home genetic test analyzes 36 clinically-relevant genes, including the ones associated with Y-chromosomal microdeletions, Congenital Bilateral Absence of Vas Deferens (absent vas deferens), Klinefelter's syndrome (extra X chromosome), Adrenal Insufficiency (Inadequate hormone production by adrenal glands),  and many more.

With a simple and hassle-free saliva test, you can identify potential red flags and track issues with your fertility from the comfort of your home. In just 15 days, you'll have a clear understanding of any genetic factors contributing to your fertility problems, giving you the information you need to make informed decisions about your reproductive health.

Treatment Options For Y Chromosome Infertility

The treatment options available for Y chromosome infertility vary depending on the type and severity of the deletion. In some cases, a man may still be able to father children using assisted reproductive technologies, such as in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI).³

However, in more severe cases, a man may not be able to produce sperm at all. In these instances, sperm may be extracted directly from the testes using a procedure called testicular sperm extraction (TESE). If viable sperm are found, they can be used for IVF or ICSI.³

Final Word

Y-chromosome infertility, caused by Y-chromosome microdeletions, can present significant challenges for couples hoping to start a family. However, with the right care and support, many individuals with this condition can overcome infertility and achieve their long-awaited parenthood dream! Advances in assisted reproductive technologies have made it possible for many men with Y chromosome microdeletions to father children, even in cases of severe sperm production defects. If you suspect that you or your partner may be affected by Y-chromosome microdeletions, it is crucial to speak with a fertility specialist who can help you with the necessary testing and treatment options.

Wish to know more? Call 1800 266 5533 or write to us at contactus@lifecell.in now.