Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters

Macrozoospermia,characterized by the presence of largeheaded spermatozoa usually carrying several flagella,is one of the most severe phenotypes of male infertility.As in most cases,the gametes are chromosomally abnormal and cannot be used for assisted reproductive technologies(ART)(Ray et al.,2017).In 2007,subjects from consanguineous families were shown to carry the same homozygous deleterious AURKC variant(NM_001015878.2:c.144delC,later renamed c.145delC,p.Leu49TrpfsTer23),establishing AURKC as the first and main gene associated with macrozoospermia(Dieterich et al.,2007).Using flow cytometry,all spermatozoa from patients homozygous for the c.145delC variant were shown to be tetraploid,highlighting a cytokinesis blockage of the first meiotic divisions thus confirming that ART cannot be successful for these patients(Dieterich et al.,2009).

睾丸后精子成熟，不育与高胆固醇血症

胆固醇是参与哺乳动物生理活动的重要分子，由于它是固醇类激素合成的通用前体物质，因而对生殖系统尤为重要。胆固醇不仅仅对于配子发生起到重要作用，它也是公认的精子功能的调节分子。胆固醇体内平衡的调节对睾丸后精子的成熟至关重要，胆固醇水平失衡会影响到睾丸后调控事件。代谢性脂质紊乱（血脂异常症）会影响男性的生育能力，但大多数这方面的研究是从内分泌/睾丸的角度进行探讨的，而这篇综述将关注像高胆固醇血症这样的特定血脂异常症在哺乳动物精子的睾丸后成熟过程中的有害影响。