Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Csilla KrauszAntoni Riera-EscamillaDaniel Moreno-MendozaKaylee HollemanFrancesca CioppiFerran AlgabaMarc PybusCorinna FriedrichMargot J WyrwollElena CasamontiSara PietroforteLiina NagirnajaAlexandra M LopesSabine KlieschAdrian PilatzDouglas T CarrellDonald F ConradElisabet ArsEduard Ruiz-CastañéKenneth I AstonWilly M BaarendsFrank TüttelmannPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Our findings contribute substantially to the development of a pre-testicular sperm extraction (TESE) prognostic gene panel. If properly validated, the genetic diagnosis of complete MA prior to surgical interventions is clinically relevant. Wider implications include the understanding of potential genetic links between nonobstructive azoospermia (NOA) and cancer predisposition, and between NOA and premature ovarian failure.