In 31 patients with NOA, variants in MAEL, MSH5, REC114 and DMRT1 were investigated through exome sequencing and functional experiments.
Interpreting the findings
The findings concern new genetic mechanisms, not a directly applicable treatment outcome.
How can you prepare for a consultation?
If you would like to discuss a genetic study, use any existing genetic and testicular pathology reports to frame your questions. Ask whether it concerns the same gene or variant, how certain the interpretation is, and how much outcome evidence supports it. Identifying a mechanism does not establish an available treatment.
Let us begin with your diagnosis, previous findings and goals as a couple. You can request an initial consultation with Prof. Dr. Mehmet Çolakoğlu to discuss what this research means for your own situation.
Use this form to request an appointment, arrange an initial consultation or ask a general question. Prof. Dr. Mehmet Çolakoğlu’s team will contact you.
