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
Forschungsartikel (Zeitschrift) | Peer reviewedZusammenfassung
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 zur Publikation
Fachzeitschrift: European Urology (Eur Urol)
Jahrgang / Bandnr. / Volume: 83
Ausgabe / Heftnr. / Issue: 5
Seitenbereich: 452-462
Status: Veröffentlicht
Veröffentlichungsjahr: 2022 (08.06.2022)
Sprache, in der die Publikation verfasst ist: Englisch
Stichwörter: American College of Medical Genetics; ClinGen; Cryptozoospermia; Exome sequencing; Genetics; Male infertility; Nonobstructive azoospermia; Obstructive azoospermia; Spermatogenic failure; Testicular sperm extraction success