Unexplained infertility is frequently caused by defective CatSper function preventing sperm from penetrating the egg coat

• DOI: 10.1101/2023.03.23.23286813
• Publication Date: 2023-03-27T22:05:13Z
• Authors: Samuel Young; Christian Schiffer; Alice Wagner; Jannika Patz; Anton Potapenko; Leonie Herrmann; Verena Nordhoff; Tim Pock; Claudia Krallmann; Birgit Stallmeyer; Albrecht Röpke; Michelina Kierzek; Cristina Biagioni; Tao Wang; Lars Haalck; Dirk Deuster; Jan N Hansen; Dagmar Wachten; Benjamin Risse; Hermann M Behre; Stefan Schlatt; Sabine Kliesch; Frank Tüttelmann; Christoph Brenker; Timo Strünker
• Keywords: Unexplained infertility; Semen Analysis

The infertility of many couples seems to rest on an enigmatic dysfunction the men’s sperm, rendering early diagnosis and evidence-based treatment by medically assisted reproduction impossible. Using a novel laboratory test, we assessed function flagellar Ca 2+ channel CatSper in sperm almost 2,300 men undergoing fertility workup. Thereby, identified group with mutations CATSPER genes affecting channel. Although standard semen computer-assisted analysis were unremarkable, required intracytoplasmic injection (ICSI) conceive child. We show that their seemingly unexplained need for ICSI is, fact, due failure CatSper-deficient human hyperactivate penetrate egg coat. In summary, our study reveals defective represents most common cause male-factor known thus far CatSper-related can readily be diagnosed, enabling treatment.