Research progress on Klinefelter syndrome

VernacularTitle:Klinefelter综合征的研究进展
Author: Qinrui JIANG ¹ ; Song QUAN ¹
Author Information

1. 南方医科大学南方医院妇产科生殖医学中心，广州　510515
Publication Type:Journal Article
Keywords: Klinefelter syndrome; Chromosome disorders; Fertility preservation; Germ cell loss; Abnormal testicular microenvironment
From: Chinese Journal of Reproduction and Contraception 2024;44(4):432-435
CountryChina
Language:Chinese
Abstract: 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.