Have you been diagnosed with a low (oligospermia) or absent (azoospermia) sperm count? In some cases, there can be an underlying genetic explanation for this, including:  

• • Congenital bilateral absence of the vas deferens (CBAVD), which is when men are born without the vas deferens (the tube that carries sperm from the testes to the urethra). This can sometimes happen if a male has a specific change in one of his genes related to cystic fibrosis.

• • An extra X chromosome (Klinefelter’s syndrome) or an extra Y chromosome (Jacobs syndrome).

• • A change in a gene called ANOS1, which causes Kallman syndrome, a condition also known to reduce or eliminate one’s ability to smell, in addition to contributing to infertility.

• • Chromosome translocations or rearrangements (when pieces of two different chromosomes break off and switch spots with each other).
  • A deletion, or loss of a small piece of genetic material, on the Y chromosome.

Meeting with a healthcare professional, such as a genetic counselor, to walk through your personal and family history can be helpful to determine the likelihood of a genetic cause for these concerns. For the majority of cases of oligo- or azoospermia, testing for all of the above things will likely come back normal, and we’re unable to determine the specific underlying cause.

Click here to learn more about scheduling a genetic counseling appointment for infertility or preconception questions.

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