Management of nonobstructive azoospermia: a committee opinion

The management of nonobstructive azoospermia in the context of fertility treatment is discussed.

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Volume 110, Issue 7, Pages 1239–1245

Authors:

The Practice Committee of the American Society for Reproductive Medicine

Abstract:

Approximately 5%–10% of men evaluated for infertility are azoospermic (12). Survey data from the United States suggests that there are approximately 600,000 azoospermic reproductive-aged U.S. men at any time, most of whom have nonobstructive azoospermia (NOA) (3). Nonobstructive azoospermia results from severe deficits in spermatogenesis that most commonly result from primary testicular dysfunction, but that may also result from impairment of the hypothalamus or pituitary. The development and widespread adoption of intracytoplasmic sperm injection (ICSI) has revolutionized treatment for NOA and enabled biological paternity in many men using surgically retrieved spermatozoa.


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1 Comments

Go to the profile of Yang Yong
Yang Yong 9 days ago

Dear committee members,

I have a doubt regard to the choice of PGT for genetic counseling for the HH patients.

The last sentence of the part titled as “DIAGNOSIS OF GENETIC ABNORMALITIES IN MEN WITH NOA ” says, quoted here: 

“Testing affords clinicians the opportunity to counsel patients about the risks of HH in their offspring, and empowers clinicians to screen for unaffected embryos using preimplantation genetic testing for aneuploidy (PGT-A) (15).”

I reviewed the article 15 referenced here and it did not mention anything regard to PGT-A or PGS. But it stated the pathogenic mutations on several genes have proved to be genetic causes of HH, including PROK2, PROKR2, GNRH1, GNRHR1, KISS1R, TAC3, TACR3, etc.

Thus, I believe the correct PGT type here should be "preimplantation genetic testing for monogenic disorders (PGT-M)" instead of PGT-A; because some types of HH have proved to be monogenetic disorder instead of aneuploidy,e.g., trisomy or monosomy like Down Syndrome.

I think the PGT-A mentioned here should be targeting the cytogenetic abnormalities mentioned in the previous paragraph, including  Robertsonian translocations, reciprocal translocations, and chromosomal inversions. This is also correctly stated in the first paragraph of "MANAGEMENT OF DETECTED GENETIC ABNORMALITIES IN MEN WITH NOA".

Overall, I think the first PGT-A mentioned in this article caused some confusions regard to fertility management and genetic counseling for HH patients.


Best,

Yang