Searchable abstracts of presentations at key conferences in endocrinology

ea0063gp250 | Disturbances of Reproduction | ECE2019

Diagnostic potential of a ‘mouse azoospermia’ gene panel in human azoospermia: identification of novel genetic causes of meiotic arrest

Riera-Escamilla Antoni , Enguita-Marruedo Andrea , Moreno-Mendoza Daniel , Chianese Chiara , Ruiz-Castane Eduard , Maggi Mario , Baarends Willy , Krausz Csilla

Purpose: Non-Obstructive Azoospermia (NOA), occurring in approximately 1% of men, has an unknown etiology in the majority of cases. This study aims at evaluating the diagnostic efficiency of a gene panel contemplating all known genes associated with azoospermia in mice.Subjects and methods: Design of a ‘mouse azoospermia’ gene panel through the consultation of MGI; selection of 175 mouse azoospermia genes with human orthologues; selection of 31...

ea0070oc9.5 | Reproductive and Developmental Endocrinology | ECE2020

Genetic dissection of spermatogenic arrest through whole exome analysis: Clinical implications for the management of azoospermic men

Riera_Escamilla Antoni , Moreno-Mendoza Daniel , Holleman Kaylee , Casamonti Elena , Cioppi Francesca , Pietroforte Sara , Ruiz-Castané Eduard , Baarends Willy , Krausz Csilla

Background: Non-obstructive azoospermia affects about 1% of men and has a multifactorial etiology with heterogeneous testicular histology. Pure spermatogenic maturation arrest (MA) is a relatively rare NOA phenotype but its clinical relevance is high, since patients affected by MA should not undergo invasive testis surgery. A clear-cut distinction between MA and other spermatogenic disturbances leading to azoospermia is not possible with the currently available clinical tools....