Alexia Chatziparasidou, MSc, PMI-RMP, Clinical Embryology Consultant,
Director at Embryolab Academy, Co-founder of Embryolab

Azoospermia is defined as the condition where no spermatozoa are identified in 2 or more ejaculation samples under microscopic observation of the samples. Around 1 in 10 infertile men suffer from azoospermia.

Up until 1995, azoospermia diagnosis was tantamount to sterility. Due to the advancements in the science of assisted reproduction, the 1st child after intracytoplasmic sperm injection using testicular spermatozoa was born in 1995, a feat that gave hope to millions of couples for the first time.

In the years that followed, the IVF method, combined with testicular biopsy, was the leading choice for men with azoospermia, and thousands of children have been born around the world to date thanks to it. Despite the very important advancements all these years, there are significant gaps in knowledge as to the genetic basis of azoospermia, as well as the ability of effective diagnosis and treatment to restore fertility in azoospermic males. Today, unravelling, the genetic basis of azoospermia seems to be the most promising path for advancing our knowledge and our diagnostic and treatment options for these men.

In 2019, the Embryolab Assisted Reproduction Unit and the Embryolab Academy, in partnership with the BIOZ Laboratory of the Department of Biochemistry and Biotechnology, University of Thessaly, submitted Spermogene, a ground-breaking research proposal, to the Research-Create-Innovate initiative, on the topic of clarifying the genetic basis of male infertility. The proposal was selected among thousands of others and received funding.

Since then, hundreds of semen and blood samples have been collected, with the support of volunteers of the Spermogene project.

The blood and semen samples undergo detailed genetic analysis using new and advanced genetic analysis tools. With the help of bioinformatics, the data arising are then analysed to identify the markers that are more directly linked to male infertility. A special group of samples is that of azoospermic males. In this patient group, we aim to:
1. Identify genetic markers that will allow us to predict whether spermatozoa will be found or not in the testicles of azoospermic males
2. Identify genetic markers that will allow us to accurately determine the functional adequacy of testicular spermatozoa and their ability to lead to a healthy pregnancy.
3. Clarify the inherited mechanisms associated with the various types of azoospermia.

More than 30,000 genes have been studied to date and their translated products (RNA molecules) have been identified and quantitatively classified in the various types of azoospermia, to identify
the underexpressed and overexpressed genes in men with azoospermia compared to men with normal spermatogenesis. The data available to date for men with azoospermia confirm the existence
of significantly different genetic expression profiles, which, in turn, greatly affect the biological paths directly or indirectly involved in the process of spermatogenesis.

This research project is a very important partnership among organisations and scientists from different fields of study, who join forces and, with the most modern genetic analysis and bioinformatics tools in their arsenals, create the best possible conditions for clarifying the genetic basis of azoospermia.