In this recent article the authors from the Münster group highlight the urgent need to further develop the clinical genetic diagnostic workup of infertile males beyond the unchanged practice of the last 20 years, which comprises solely screening for chromosomal aberrations and Y-chromosomal AZF deletions. Thus, in a pilot study, they started to analyse a small gene panel consisting of TEX11, NR5A1 and DMRT1 in azoospermic men and found likely pathogenic mutations as a cause of azoospermia in 5% of patients. Comparable to other diseases, this clearly illustrates the power of gene-panel sequencing also in infertile males.
Recent News & Publications
- – The European Congress of Andrology (ECA), 9-12 December 2020. https://www.andrology2020.de/
- – The European Testis Workshop, 30-3 May-June 2021: http://www.etw2020.org/
- – The European Society of Human Genetics Conference (ESHG), Glasgow United Kingdom, 12–15 June 2021: https://www.eshg.org/
- – The Society for the Study of reproduction (SSR), 4-7 August 2021: http://www.ssr.org/
- – The American Society of Human Genetics, Virtual Meeting, 27-30 October 2020: https://www.ashg.org/meetings/2020meeting/