A homozygous SPDYA variant associated with meiotic arrest and failed microdissection testicular sperm extraction in non-obstructive azoospermia
Background Non-obstructive azoospermia (NOA) with meiotic maturation arrest is a severe form of male infertility for which genetic diagnosis may inform counseling and sperm-retrieval expectations. Methods Whole-exome sequencing was performed in a consanguineous family with NOA, followed by SPDYA variant screening in 31...