Franik S, Smeets D, van de Zande G, Gomes I, D'Hauwers K, Braat D D M, Fleischer K, Ramos L
Department of Obstetrics and Gynaecology, Radboudumc Nijmegen, Nijmegen, The Netherlands.
Department of Obstetrics and Gynaecology, University Hospital Münster, Münster, Germany.
Andrologia. 2018 Jun;50(5):e13004. doi: 10.1111/and.13004. Epub 2018 Mar 7.
With the use of testicular sperm extraction (TESE), spermatozoa can be retrieved in about 30%-50% of men with Klinefelter syndrome (KS). The reason for the absence or presence of spermatozoa in half of the men with KS remains unknown. Therefore, the search for an objective marker for a positive prediction in finding spermatozoa is of significant clinical value to avoid unnecessary testicular biopsies in males with (mostly) low testicular volume and impaired testosterone. The objective of this study was to determine whether paternal or maternal inheritance of the additional X-chromosome can predict the absence or presence of spermatogenesis in men with KS. Men with KS who have had a testicular biopsy for diagnostic fertility workup TESE were eligible for inclusion. Buccal swabs from nine KS patients and parents (trios) were taken to compare X-chromosomal inheritance to determine the parental origin of both X-chromosomes in the males with KS. Spermatozoa were found in TESE biopsies 8 of 35 (23%) patients after performing a unilateral or bilateral TESE. Different levels of spermatogenesis (from the only presence of spermatogonia, up to maturation arrest or hypospermatogenesis) appeared to be present in 19 of 35 (54%) men, meaning that the presence of spermatogenesis not always yields mature spermatozoa. From the nine KS-trios that were genetically analysed for X-chromosomal inheritance origin, no evidence of a correlation between the maternal or paternal origin of the additional X-chromosome and the presence of spermatogenesis was found. In conclusion, the maternal or paternal origin of the additional X-chromosome in men with KS does not predict the presence or absence of spermatogenesis.
通过睾丸精子提取术（TESE），约30%-50%的克兰费尔特综合征（KS）男性患者能够获取精子。半数KS男性患者存在或不存在精子的原因尚不清楚。因此，寻找一种用于预测精子存在的客观标志物，对于避免对（大多数）睾丸体积小且睾酮水平受损的男性进行不必要的睾丸活检具有重要临床价值。本研究的目的是确定额外X染色体的父系或母系遗传是否能够预测KS男性患者精子发生的存在或缺失。因诊断性生育检查行TESE睾丸活检的KS男性患者符合纳入标准。采集了9名KS患者及其父母（三联体）的口腔拭子，以比较X染色体遗传情况，确定KS男性患者两条X染色体的亲本来源。在35例患者中，8例（23%）在进行单侧或双侧TESE后，TESE活检中发现了精子。35例男性中有19例（54%）存在不同程度的精子发生（从仅存在精原细胞到成熟停滞或精子发生低下），这意味着精子发生的存在并不总是产生成熟精子。在对9个KS三联体进行X染色体遗传起源基因分析后，未发现额外X染色体的母系或父系来源与精子发生存在之间存在相关性。总之，KS男性患者额外X染色体的母系或父系来源不能预测精子发生的存在或缺失。
