New Male Infertility Woes

Infertility in men, which affects five percent of the male population, can take many forms and extend to various degrees. On he extreme end of that spectrum is azoospermia, a condition in which sperm cells are completely absent. Approximately one percent of the male population suffer from azoospermia,

Researchers at Ben-Gurion University of the Negev and Soroka University Medical Center in Beer-Sheva, Israel have some new insight into the condition: They have discovered a genetic mutation that prevents sperm production. For the first time, the researchers identified a mutation in the gene TDRD9 using whole genome genotyping and sequencing.

The discovery was not without serendipity. The findings were possible only because five men from a single Bedouin family suffered from lack of sperm and spermatogenic arrest in their testis. With no obvious cause, they sought treatment by Dr. Eitan Lunenfeld and his team at Soroka’s In Vitro Fertilization Unit.

When professors Ruti Parvari and Mahmoud Huleihel of the Shraga Segal Department of Microbiology, Immunology and Genetics dug a little deeper, they discovered the mutation in the gene. The gene normally protects the full DNA sequence in sperm, but the newly-discovered mutation inactivates the function of the gene and prevents sperm production.

“With the link between this damaged gene and male infertility now identified, specific scans will be available to test for the mutation that will be important for treatment of a couple’s infertility,” the researchers say.

The research has been published in the Journal of Medical Genetics.