Birth Defects, Fertility and Fatherhood

Ever wonder about the future fertility of children born with birth defects? As a urologist, I’ve treated hundreds of boys with two common birth defects: undescended testicles and hypospadias. Throughout my career, it’s been hard to address the question of a boy’s future fertility with these conditions. Until now.

Bent but not broken tree.
Bent but not broken. (Courtesy: Maria Polyzogopoulou)

Missing in Action

Birth defects occur in 3% of U.S. newborns. And, believe it or not, 4000 conditions have been described. Among the most common are undescended testicles (2% of newborns) in which either or both testicles fail to drop into the corner pocket of the scrotum, and hypospadias (1/200) in which the urethra or urine tube isn’t located at the tip of the penis, but along its underside instead. Both are surgically correctable for the most part. Given that both conditions affect the reproductive organs, you might guess that they might have an impact on fertility later in life.
I published a paper years ago looking at the fertility implications of urological congenital anomalies and at that time, there simply wasn’t much known about it. Given the rapid rise of IVF, however, it made sense to review the field because if sperm exists anywhere nowadays, then fertility is possible.

What’s Up Down Under

One of the best studies on this topic was just published. It followed all liveborn boys (350,000+!) in Western Australia for almost 50 years, well into adulthood. They tracked boys with undescended testicles and hypospadias and examined subsequent cancer, fertility and infertility rates (as assessed by use of IVF). That’s a lotta tracking of a lotta boys over a lotta time.
In a nutshell, here’s what they found:

  • Undescended testicles had a 2.4-fold increased risk of testicular cancer
  • Males with hypospadias had a possible increase in testicular cancer
  • Both conditions were associated with a 21% reduction in paternity
  • Undescended testes were associated with a 2.2-fold increase in IVF use

This study is simple, powerful, large, and population-based. Importantly, they examined “real-deal” outcomes, actual paternity, and not just sperm counts. The findings in cases of undescended testicle align with our current understanding of its effects. The hypospadias findings are new, insightful and significant. The granularity of the observations is also more than we’ve ever had. And this is where good science informs and changes how we practice medicine.

8 thoughts on “Birth Defects, Fertility and Fatherhood

  1. I wonder if the hypospadias cases somehow cause higher dna fragmentation to occur therefore reducing their fertility? And if so why would that defect cause that?

    1. Dear Jessica, good thought but I think that hypospadias is simply a vector/delivery problem. Shouldn’t hold up the sperm and increase DNA fragmentation.

  2. Hello Dr. Turek,
    I am Syed, 27 from India. I was born with only one testicle and even after scanning during childhood the missing testicle wasn’t detected. At the age of 20 I had testicular torsion and my only one testicle had to be removed. They performed another abdominal scan to detect the missing testicle but it wasn’t found.
    After the surgery the urologist prescribed me 1000 mg/4 ml Testosterone Undecanoate injection once every 3/4 months. Even after the surgery I have erections but not as strong as before and also ejaculate faster than before. Now I would like to settle down and have kids and would like to seek your valuable suggestions and help in this regard. Also is there any chance the missing testicle is still in my abdomen and can it be descended now or are there any other ways to create my sperm and have children.

    In anticipation your immediate response/suggestion.


    1. Dear Syed, there is a small chance that IF you have a remaining testis and IF you can get it placed back into the scrotum then that testis may produced sperm for an IVF baby. First step is to know for certain if you have a remaining testis. MRI is good for this. Laparoscopy is better. Pediatric urologist do this. Moving the testis to the scrotum is a whole different level of expertise though.

  3. My husband,35 was born with one undescended testicle(his father, grandfather and his paternal uncle’s had same issues) which came down in his childhood… He was then operated for inguinal hernia (10 years ago) after which both his testes raised up… He was diagnosed with non obstructive azoospermia 3 years ago. Performed a micro TESE procedure today but the embryologist said only two immature sperm cells are present and no other sperm cells are found. They have sent his tissues for biopsy. Can you please advice doctor if there are chances to find sperms. His FSH level s 27…

    1. Dear Prema, sounds like they actually found sperm. Did they freeze it? At this point, I might consider a different approach, which is to do sperm Mapping (nonsurgical) to find pockets of sperm that might have been missed by the mTESE procedure. Our rate of finding sperm using FNA or sperm Mapping after failed mTESE in which NO SPERM were found is 29%. Probably higher here….

  4. Thanks Dr for bringing in some hope. The embryologist said that they found only two immature sperms and they did not find any other. They did not retrieve those two cells and the reason they said was they cannot use it for fertilization. They said the seminiferous tubules are in excellent condition but they are surprised on why they couldn’t find sperms. They are advising for donor now. We are from India currently residing in Germany. Can you kindly suggest where Fna mapping is done in either of these places. We are hoping to have our child. Kindly help us on how to proceed.

Leave a Reply

Your email address will not be published. Required fields are marked *