Q&A: Ronald Anglade, MD, on genetic testing in male infertility

Male factors contribute to a substantial share of infertility among couples, yet evaluation of the male partner often lags behind the female partner’s workup. Genetic testing is one area where earlier, targeted evaluation can clarify the cause of impaired sperm production and spare patients unnecessary procedures.

Ronald Anglade, MD, medical director of Georgia Urology in metro Atlanta, spoke with Urology Times^® at the 2026 LUGPA Annual Meeting about genetic testing in male infertility. He discussed the prevalence of male infertility, the most common genetic abnormalities affecting spermatogenesis, and clinical presentations suggesting a chromosomal abnormality. He also addressed which patients warrant genetic testing, where evaluation and management can improve, and why couples should be evaluated concurrently.

This Urology Times Q&A has been edited and consolidated from a recorded interview to improve readability while preserving the substance of the original conversation.

Urology Times: How common is male infertility, and how often do male factors contribute to a couple’s difficulty conceiving?

Anglade: As far as male infertility is concerned, it affects roughly 7% of men. However, when we talk about how it relates to a couple’s ability to achieve a pregnancy naturally, we say about a third of fertility issues are a couple’s issue, a third are male, and a third are female. So, in totality, male infertility affects about 50% of couples and their ability to have a child through intercourse.

And it is obviously an important issue, as many couples sometimes delay having children and find they have trouble as time progresses.

Urology Times: What are the most common genetic abnormalities associated with male infertility, and how do they affect spermatogenesis?

Anglade: Some of the most common causes we find when it comes to genetics are certain syndromes. There’s one called Klinefelter syndrome, where there’s the presence of an extra X chromosome. There are specific chromosomal deletions on the Y chromosome that can affect spermatogenesis.

There are also genetic causes, particularly one associated with, or along the spectrum of, cystic fibrosis, where the man’s vas deferens does not develop normally [congenital absence of the vas deferens]. When that occurs, there’s no way for sperm to actually enter the ejaculate, so that can lead to fertility issues.

In general, in my practice, it’s important that we test men for the presence of genetic issues when we find significant oligospermia, and that’s when we find a sperm count of less than 5 million sperm per cc of ejaculate, or azoospermia, where there’s no sperm in the ejaculate at all. And in many instances, even though men suffer from these issues and we can identify genetic causes, they can still achieve a pregnancy. Maybe not through natural conception or intercourse, but through other ways in which we can help people still achieve pregnancy and have offspring of their own genetic material.

Urology Times: Which clinical presentations should raise suspicion for Klinefelter syndrome or other chromosomal abnormalities?

Anglade: That’s an excellent question. Even though we talk about genetics, and you can’t see someone’s genetics just by looking at them, there are some physical characteristics you can sometimes identify, particularly small testicles, [which] will give you some indication of that. Sometimes, you’ll find men who just have a different appearance.

Particularly when it comes to Klinefelter’s, we used to say it’s associated with tall stature [and] small testicles. But again, even if someone’s appearance doesn’t give off a genetic abnormality, we should test, because you may not see it. Many genetic abnormalities are not visible.

Urology Times: Which men should undergo genetic testing as part of an infertility evaluation?

Anglade: Not all men need a genetic evaluation, but when you do find individuals with very impaired sperm production, very low sperm counts…they require an evaluation.

Men with what we call nonobstructive azoospermia, where they haven’t had a vasectomy but you find no sperm in their ejaculate, should undergo genetic evaluation. Also, some men with specific [findings on] hormonal evaluation. We will test men’s hormones, but if we find they’ve got extremely low hormones, they also may benefit from a genetic evaluation.

So, you don’t lose anything by getting the genetic evaluation when indicated. And the earlier we do so, sometimes it may save a man unnecessary testing or surgery if we can identify a genetic cause to their infertility or poor sperm production.

Urology Times: Where are the greatest opportunities to improve the evaluation and management of male infertility?

Anglade: As it pertains to genetic evaluation, I’ll tell you [as] with everything in the biomedical sciences, we’re learning more and more about genes and genetics. I’m sure it’s not uncommon that I have a consultation with a patient and they have very poor sperm production without a cause. We call it idiopathic, but I would imagine going forward we’ll be able to find more genes that may be associated with infertility or poor sperm production.

And in general, as far as male fertility goes, I think we haven’t identified many causes for the decrease in sperm production as men age, and so on. As our understanding of biology improves, I’m pretty sure we’ll be able to identify some additional causes that can affect sperm production.

Urology Times: Is there anything else you’d like our audience to take away?

Anglade: One thing I always recommend, and I’ve been recommending it for years, is the male evaluation should not be delayed. I’ve seen throughout my career many female partners of a couple want to go [through] significant testing and significant evaluation, even invasive testing, before a man will even have a semen analysis.

In those situations, it’s unfortunate that we can’t get the male into the doctor’s office, even a primary care office, for just a general evaluation and a semen analysis to see if that issue may be more the cause of the fertility problems than just being a female issue.

So, the biggest take-home, I always say, is, “Look, it’s not just a woman’s issue.” When a couple wants to have a child, it’s a couple’s issue, and the couple should be evaluated concurrently.