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 reviewed

Abstract

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

JournalEuropean Urology (Eur Urol)
Volume83
Issue5
Page range452-462
StatusPublished
Release year2022 (08/06/2022)
Language in which the publication is writtenEnglish
DOI10.1016/j.eururo.2022.05.011
Link to the full texthttps://www.sciencedirect.com/science/article/abs/pii/S0302283822023843?via=ihub
KeywordsAmerican College of Medical Genetics; ClinGen; Cryptozoospermia; Exome sequencing; Genetics; Male infertility; Nonobstructive azoospermia; Obstructive azoospermia; Spermatogenic failure; Testicular sperm extraction success

Authors from the University of Münster

Cremers, Jann-Frederik
Abteilung für Klinische Andrologie
Dicke, Ann-Kristin
Institute of Reproductive Genetics
Emich, Jana Franziska
Institute of Reproductive Genetics
Friedrich, Corinna
Institute of Reproductive Genetics
Kliesch, Sabine
Centre of Reproductive Medicine and Andrology
Krallmann, Claudia
Centre of Reproductive Medicine and Andrology
Ledig, Susanne
Institute of Human Genetics
Pohl, Eva
Institute of Reproductive Genetics
Röpke, Albrecht
Institute of Human Genetics
Rotte, Nadja
Institute of Reproductive Genetics
Ruckert, Christian
Institute of Human Genetics
Seggewiß, Jochen
Institute of Human Genetics
Stallmeyer, Birgit Annemarie
Institute of Reproductive Genetics
Tewes, Ann-Christin
Institute of Human Genetics
Tüttelmann, Frank
Institute of Reproductive Genetics
Wistuba, Joachim
Centre of Reproductive Medicine and Andrology
Wöste, Marius
Institute of Medical Informatics
Wyrwoll, Margot Julia
Institute of Reproductive Genetics