biostudies-literatureUnknown10(3)Stormont GDInfertility affects approximately 15% of couples. With infertility such a common problem in a generally healthy age group, complete evaluation is needed of both men and women. Infertility work up for men includes a semen analysis, the results of which suggest various supplemental studies, including karyotype. Karyotype is indicated when a patient has findings on history or physical exam concerning for chromosomal abnormalities, azoospermia, or severe oligospermia (count <5 million/mL). The most common chromosomal numerical abnormality found on karyotype is Klinefelter syndrome which is classified as redundant sex chromosomes, with the most common chromosomal arrangement being 47, XXY. If a patient is found to have a chromosomal abnormality such as Klinefelter's, there is still a chance of fertility using testicular sperm extraction and in-vitro fertilization.Translational andrology and urology1365-1372https://www.ebi.ac.uk/biostudies/studies/S-EPMC8039619biostudies-literatureGenetic causes and management of male infertility.PMC8039619Stormont GDDeibert CMfalseGenetic causes and management of male infertility.Infertility affects approximately 15% of couples. With infertility such a common problem in a generally healthy age group, complete evaluation is needed of both men and women. Infertility work up for men includes a semen analysis, the results of which suggest various supplemental studies, including karyotype. Karyotype is indicated when a patient has findings on history or physical exam concerning for chromosomal abnormalities, azoospermia, or severe oligospermia (count <5 million/mL). The most common chromosomal numerical abnormality found on karyotype is Klinefelter syndrome which is classified as redundant sex chromosomes, with the most common chromosomal arrangement being 47, XXY. If a patient is found to have a chromosomal abnormality such as Klinefelter's, there is still a chance of fertility using testicular sperm extraction and in-vitro fertilization.2021-01-01T00:00:00Z2021 Mar2025-04-27T00:10:30.042Z2025-04-06T17:46:57.168ZS-EPMC80396193385077210.21037/tau.2020.03.34