Sperm extraction in nonmosaic Klinefelter syndrome patients: A case series and literature review of sperm extraction in Klinefelter syndrome patients

Klinefelter syndrome (KF) is a group of chromosomal disorders with at least one extra X chromosome in male individuals that leads to infertility and diminished hair growth in affected males. In this study, we present a case series of 16 nonmosaic KF and an extensive literature review. This is a retrospective study including 16 nonmosaic Klinefelter Syndrome patients that underwent micro-testicular sperm extraction (m-TESE) at our center between January 2016 and December 2022. Frequencies and percentages were used to present categorical variables, whereas continuous variables were presented as the median and interquartile range (IQR). The sperm retrieval rate (SRR) was assessed using a one-sample proportions test with continuity correction. Fisher’s exact test was to assess the differences between patients with negative and positive retrieval in terms of the categorical variables. A Wilcoxon rank-sum test was applied to explore the between-group differences in the numerical variables. A literature search was performed for additional publications of discussing m-TESE among KF patients. The median (IQR) age of patients was 40.0 years (34.5–47.0). All of the patients had nonobstructive azoospermia, and the majority of them (93.8%) had primary infertility. The most common histopathological findings were atrophic tubules (57.1%), followed by Sertoli cell-only (28.6%). Sperm retrieval was positive for two patients with a rate of 12.5% (95% confidence interval 2.2 to 39.6). Patients with positive sperm retrieval were significantly younger than their peers with negative retrieval (median = 28.0, IQR = 27.5 to 28.5 vs. median = 41.5, IQR = 35.8 to 47.0, P = 0.031). The successful conception rate was 100% (n = 2) using intracytoplasmic sperm injection with a birth rate of 100% (n = 2). Our observed SRR among nonmosaic KF patients was marginally lower than the reported literature. Younger-age patients were significantly more likely to benefit from the procedure.