Playing the Genetic Cards You’re Dealt

The case of the month is an actual patient of The Turek Clinic.
It’s unbelievable how your genes, those tiny little chunks of DNA that make you who you are, can be sources of both delight and despair in life.

Azoospermic Angst

My lovely patient was trying to conceive for several years. Upon evaluation, he was found to be a healthy man with no sperm count (azoospermia). No obvious cause could be identified, however, elevated FSH blood levels suggested that there was a sperm production problem.
After visiting several doctors and hearing several opinions on his potential to father children, he came to me confused and dismayed. I explained that his infertility could very well be genetic in nature and could have nothing to do with how he has lived his life. No need to blame himself. Following through, I ordered a blood test that showed that he was missing most of the fertility regions on the Y chromosome.

The Despair

I explained that, yes, he could proceed with Sperm FNA Mapping to look for testicular sperm but, given his Y chromosome deletion, sperm has never been found in this scenario. He elected to pass on Mapping. I also offered him the chance to participate in our stem cell research project at Stanford in which we would use a piece of his skin to create sperm precursors cells and maybe, someday, sperm. Although hurting from the news, as a man of grace and altruism, he accepted this offer.
Recently, we published research showing what we were able to do with his skin cells: to create early testicular germ cells. Not sperm, but sperm precursor cells. I thanked him for participating in the research and sent him a copy of the published paper.

The Delight

Here was his response:

“I reflect back over three years ago when various Dr’s would give us information about my medical condition that would provide hope one day and discouragement the next. We were then referred to you and went through the genetic testing to see if mapping would be an option. Together, we determined that wasn’t possible. Receiving that news was actually freeing because we could finally put closure to the ups and downs (and arguments at home) of ever having biological children. At that point, we looked at our options and proceeded with embryo adoption. I am now the proud father of a 23-month old girl and new twin boys (9 weeks).

While you didn’t find a way to obtain sperm from my body, you did help us move to next steps in our family planning, so thank you!!!  Thanks for being a support to men who face the challenges and disappointments of infertility. It sure makes us men not feel “manly” at times when sent to Urology, but you see right past that and help us not feel alone or different.”

Amen. May man’s nobility always trump the genetic hand that he’s dealt!