Genetics of male infertility

C Krausz, V Rosta, RS Swerdloff, C Wang - Emery and rimoin's principles …, 2022 - Elsevier
Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of
cases may be ascribed to genetic factors, such as monogenic and chromosomal defects.
The screening of some of these genetic factors should be part of the diagnostic workup of an
infertile male with severe oligozoospermia or azoospermia. In the group of chromosomal
anomalies, karyotype aberrations (Klinefelter syndrome, translocations/inversions) and …