Plotton Ingrid, Brosse Aurélie, Cuzin Beatrice, Lejeune Hervé
Service de médecine de la reproduction, hôpital Femme-Mère-Enfant, France; Laboratoire d'endocrinologie moléculaire et maladies rares, centre de biologie et de pathologie Est, hospices civils de Lyon, groupement hospitalier Est, 59, boulevard Pinel, 69677 Bron cedex, France; Université Claude-Bernard - Lyon 1, 8, avenue Rockfeller, 69008 Lyon, France; Inserm U 846, 18, rue du Doyen-Lepine, 69500 Bron, France.
Service de médecine de la reproduction, hôpital Femme-Mère-Enfant, France.
Ann Endocrinol (Paris). 2014 May;75(2):118-25. doi: 10.1016/j.ando.2014.04.004. Epub 2014 Apr 29.
Until few years ago, Klinefelter syndrome with a homogenous 47,XXY karyotype was considered a model of absolute male sterility. We will discuss first the potential fertility following Testicular Sperm Injection, then the physiopathology of spermatogenic failure and the origin of focal spermatogenesis and risk of aneuploidy in offspring, and third the advantage of searching spermatozoa earlier instead of adult age. The rate of positive sperm extraction seems to be better for younger patients. During childhood, there is a low rate of spermatogonia. The spermagonia, which completes the spermatogenesis, seems resulting from a rare clone of 46,XY gonia, having lost their extra X chromosome. Several arguments suggest that this focal spermatogenesis decreases with age. In addition, androgen treatment, frequently prescribed in case of Klinefelter syndrome, carries a risk of decreasing focal spermatogenesis by lowering gonadotropins. The question arises if it is necessary to expect the sperm cryopreservation before introducing androgen treatment. Further studies are necessary to determine the best age of sperm retrieval in case of Klinefelter syndrome.
直到几年前，具有均一47,XXY核型的克兰费尔特综合征还被视为绝对男性不育的典型病例。我们将首先讨论睾丸精子注射后的潜在生育能力，然后是生精失败的病理生理学、局灶性生精的起源以及后代非整倍体的风险，最后是更早而非成年后寻找精子的优势。年轻患者的精子提取阳性率似乎更高。在儿童期，精原细胞的发生率较低。完成精子发生的精原细胞似乎源自罕见的46,XY生殖细胞克隆，这些细胞丢失了额外的X染色体。有几个论据表明，这种局灶性生精会随着年龄增长而减少。此外，克兰费尔特综合征患者经常使用的雄激素治疗存在通过降低促性腺激素而减少局灶性生精的风险。在引入雄激素治疗之前是否有必要先进行精子冷冻保存的问题由此产生。需要进一步研究以确定克兰费尔特综合征患者取精的最佳年龄。
