Klinefelter syndrome (KS) is a sex chromosome abnormal disease that can lead to spermatogenesis disorders, germ cell loss, male infertility and growth and developmental abnormalities. The abnormal gene expression and testicular microenvironment caused by the extra chromosome in KS patients are closely related to spermatogenesis disorders and germ cell loss, and the pathogenesis has not yet been elucidated. There are several technologies available that can provide technical means for fertility preservation and reproduction in KS patients, including sperm cryopreservation, microdissection testicular sperm extraction, and intracytoplasmic sperm injection, among which artificial gamete technology shows promise as a potential new treatment for KS infertility. Nevertheless, this technology is not yet fully mature and there are still safety and ethical issues. This article provides a comprehensive review of the research progress on KS, offering new insights for its diagnosis and treatment.

Klinefelter syndrome (KS) is a sex chromosome abnormal disease that can lead to spermatogenesis disorders, germ cell loss, male infertility and growth and developmental abnormalities. The abnormal gene expression and testicular microenvironment caused by the extra chromosome in KS patients are closely related to spermatogenesis disorders and germ cell loss, and the pathogenesis has not yet been elucidated. There are several technologies available that can provide technical means for fertility preservation and reproduction in KS patients, including sperm cryopreservation, microdissection testicular sperm extraction, and intracytoplasmic sperm injection, among which artificial gamete technology shows promise as a potential new treatment for KS infertility. Nevertheless, this technology is not yet fully mature and there are still safety and ethical issues. This article provides a comprehensive review of the research progress on KS, offering new insights for its diagnosis and treatment.