Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
Wyrwoll, Margot J; Köckerling, Nils; Vockel, Matthias; Dicke, Ann-Kristin; Rotte, Nadja; Pohl, Eva; Emich, Jana; Wöste, Marius; Ruckert, Christian; Wabschke, Rebecca; Seggewiss, Jochen; Ledig, Susanne; Tewes, Ann-Christin; Stratis, Yvonne; Cremers, Jann-Frederik; Krallmann, Claudia; Wistuba, Joachim; Röpke, Albrecht; Kliesch, Sabine; Friedrich, Corinna; Stallmeyer, Birgit; Tüttelmann, Frank
Research article (journal) | Peer reviewedAbstract
The number of diagnostic genes in crypto-/azoospermia was almost doubled to 21 using exome-based analyses and clinical guidelines. Application of this procedure in routine diagnostics will significantly improve the diagnostic yield and clinical workup as the results indicate the success rate of testicular sperm extraction.
Details about the publication
Journal: European Urology (Eur Urol)
Volume: 83
Issue: 5
Page range: 452-462
Status: Published
Release year: 2022 (08/06/2022)
Language in which the publication is written: English
Link to the full text: https://www.sciencedirect.com/science/article/abs/pii/S0302283822023843?via=ihub
Keywords: American College of Medical Genetics; ClinGen; Cryptozoospermia; Exome sequencing; Genetics; Male infertility; Nonobstructive azoospermia; Obstructive azoospermia; Spermatogenic failure; Testicular sperm extraction success