The Genetics of Infertility: Current Status of the Field

The Genetics of Infertility: Current Status of the Field

The Genetics of Infertility: Current Status of the Field



Michelle Zorrilla and Alexander N Yatsenko* Departments of Obstetrics, Gynecology and Reproductive Sciences, Pathology, School of Medicine, University of Pittsburgh


Infertility is a relatively common health condition, affecting nearly 7% of all couples. Clinically, it is a highly heterogeneous pathology with a complex etiology that includes environmental and genetic factors. It has been estimated that nearly 50% of infertility cases are due to genetic defects. Hundreds of studies with animal knockout models convincingly showed infertility to be caused by gene defects, single or multiple. However, despite enormous efforts, progress in translating basic research findings into clinical studies has been challenging. The genetic causes remain unexplained for the vast majority of male or female infertility patients. A particular difficulty is the huge number of candidate genes to be studied; there are more than 2,300 genes expressed in the testis alone, and hundreds of those genes influence reproductive function in humans and could contribute to male infertility. At present, there are only a handful of genes or genetic defects that have been shown to cause, or to be strongly associated with, primary infertility. Yet, with completion of the human genome and progress in personalized medicine, the situation is rapidly changing. Indeed, there are 10-15 new gene tests, on average, being added to the clinical genetic testing list annually.


This article describe both male and female genetic issues that effect the fertility:

Male Genetic Issues (Read more about each chromosomal defects by opining the full article):

  1. Klinefelter syndrome
  2. 47,XYY syndrome
  3. Structural chromosomal abnormalities
  4. Y chromosome microdeletions
  5. Robertsonian translocations
  6. Balanced translocations
  7. Testicular disorder of sex development (DSD)
  8. Complex structural chromosome aberrations
  9. Genomic copy number variants (CNVs)
  10. Single-gene disorders

Read more at:

  1. I sent you an e-mail several days ago to inquire about the suitability of this treatment for my condition, but I have not received any response from you till today. I would like you to reply because I want to get this treatment. I have a small number of sperm under the million, knowing that it was more, but it started to decrease. And decrease over time

  2. It’s not my first time to visit this website, i am browsing this site dailly and take nice data from here everyday.

Leave a reply

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