Department of Growth and Reproduction and EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Department of Urology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Hum Reprod. 2021 Feb 18;36(3):543-550. doi: 10.1093/humrep/deaa314.
Is testicular function associated within father-son pairs?
Familial resemblance in testis volume and serum markers of spermatogenesis was observed in father-son pairs.
Studies suggest familial clustering of male subfertility and impaired spermatogenesis, but in men from the general population little is known about concordance in testicular function between fathers and sons.
STUDY DESIGN, SIZE, DURATION: This cross-sectional study with simultaneous collection of data in fathers and sons included 72 pairs (144 fathers and sons), unselected regarding testicular function were included.
PARTICIPANTS/MATERIALS, SETTING, METHODS: A subgroup of men from the background population and participating in a study on testicular function were asked permission to invite their fathers to participate in a similar setup. Fathers (median age of 53 years) and sons (median age of 19 years) participated in the same study setup including assessment of testis size, having a blood sample taken and analysed for serum levels of reproductive hormones (FSH, inhibin B, LH, testosterone, oestradiol, sex hormone-binding globulin (SHBG) and calculated free testosterone) and delivering a semen sample for assessment of traditional semen parameters. Mixed-effects models were fitted to estimate the familial resemblance as the proportion of variance in markers of testicular function due to shared factors for fathers and sons accounted for using random-effects. Variance components were calculated from both unadjusted and adjusted models.
After adjustments, variance component analyses showed that familial resemblance between fathers and sons accounted for 48% (P < 0.001) of the variation in testicular volume, 32% (P = 0.009) of the variation in FSH, 31% (P = 0.009) of the variation in the inhibin B/FSH ratio, 33% (P = 0.007) and 45% (P < 0.001) of the variation in testosterone and free testosterone, respectively, and 31% (P = 0.009) of the variation in SHBG. None of the semen parameters were associated within father-son pairs.
LIMITATIONS, REASONS FOR CAUTION: The present study may have lacked power to detect associations for semen quality, as large intra- and inter-individual variation occur in semen parameters.
In this study, testis volume, serum testosterone and serum markers of spermatogenesis including FSH were associated in fathers and sons, suggesting an impact of paternal genetics for testicular function in the son. However, the estimated familial resemblance for spermatogenesis markers highlights that other factors, such as maternal genetics and prenatal as well as adult exposures, are also of major importance for testicular function.
STUDY FUNDING/COMPETING INTEREST(S): The study has received funding from Danish Health Authority, Research Fund of the Capital Region of Denmark and Independent Research Fund Denmark (8020-00218B). None of the funders had any role in the study design, collection, analysis or interpretation of data, writing of the paper of publication decisions. The authors have nothing to disclose.
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父子之间睾丸功能是否存在关联？
在父子对中观察到睾丸体积和血清生精标志物的家族相似性。
研究表明男性生育力低下和精子发生受损存在家族聚集性，但在一般人群中的男性中，关于父子之间睾丸功能的一致性知之甚少。
研究设计、大小、持续时间：本研究为横断面研究，同时在父亲和儿子中收集数据，共纳入 72 对（144 对父子），无选择地纳入睾丸功能正常的父子。
参与者/材料、地点、方法：背景人群中参与睾丸功能研究的一部分男性被要求允许邀请他们的父亲参加类似的研究。父亲（中位年龄 53 岁）和儿子（中位年龄 19 岁）参加了相同的研究设置，包括评估睾丸大小、采集血液样本并分析生殖激素（FSH、抑制素 B、LH、睾酮、雌二醇、性激素结合球蛋白（SHBG）和计算游离睾酮）以及提供精液样本以评估传统精液参数。使用随机效应来估计父子之间的家族相似性，即由于父亲和儿子之间共享因素导致的睾丸功能标志物的方差比例。使用未调整和调整后的模型计算方差分量。
调整后，方差成分分析显示，父子之间的家族相似性占睾丸体积变化的 48%（P<0.001），FSH 变化的 32%（P=0.009），抑制素 B/FSH 比值变化的 31%（P=0.009），睾酮和游离睾酮变化的 33%（P=0.007）和 45%（P<0.001），SHBG 变化的 31%（P=0.009）。父子之间没有任何精液参数存在关联。
局限性、谨慎的原因：本研究可能由于精液参数个体内和个体间的巨大差异而缺乏检测关联的能力。
在这项研究中，睾丸体积、血清睾酮和包括 FSH 在内的血清生精标志物在父子之间存在关联，表明父系遗传对儿子的睾丸功能有影响。然而，对于生精标志物的估计家族相似性突出表明，其他因素，如母系遗传以及产前和成人暴露，对睾丸功能也非常重要。
研究资金/竞争利益：该研究得到了丹麦卫生局、丹麦首都地区研究基金会和独立研究基金会（8020-00218B）的资助。这些资助者在研究设计、数据收集、分析或解释、论文撰写或出版决策方面均没有任何作用。作者没有什么可披露的。
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