Kliesch S, Zitzmann M, Behre H M
Klinische Andrologie, Centrum für Reproduktionsmedizin und Andrologie, Universitätsklinikum Münster, Domagkstraße 11, 48149 Münster, Deutschland.
Urologe A. 2011 Jan;50(1):26-32. doi: 10.1007/s00120-010-2443-0.
In the past 10 years, our knowledge about fertility chances of patients with Klinefelter syndrome (KS, 47,XXY) has changed considerably, especially when regarding the possibility of IVF ICSI treatment (in vitro fertilisation, intracytoplasmic sperm injection) with single testicular spermatozoa. Thus, it is important to take this knowledge into consideration when counselling Klinefelter patients.Germ cell degeneration in the testicles of Klinefelter patients due to their additional X chromosome is an important phenomenon in this disease which is not yet fully understood. When entering puberty, the testicular volume of KS patients increases for a short time with rising testosterone and inhibin B levels at the same time. These decrease, however, and FSH increases during puberty. This seems to indicate a critical point in time when spermatogenetic function of the testicles could still be existent. Thus, in early puberty there could possibly be a time slot when spermatozoa could be detected in the ejaculate or-if not-at least in the testicular tissue. These could be extracted by testicular sperm extraction, cryopreserved and used for intracytoplasmic sperm injection therapy later on. In the literature, a total of 133 births of children from Klinefelter fathers have been reported. This early specific procedure could lead to a better acceptance of their diagnosis and also offer the option of not being incurably infertile.
在过去10年里，我们对克氏综合征（KS，47,XXY）患者生育几率的认识发生了很大变化，尤其是在考虑利用单个睾丸精子进行体外受精-卵胞浆内单精子注射（IVF-ICSI）治疗的可能性时。因此，在为克氏综合征患者提供咨询时，考虑到这一知识非常重要。克氏综合征患者由于额外的X染色体导致睾丸中的生殖细胞退化，这是该疾病中一个尚未完全了解的重要现象。进入青春期时，KS患者的睾丸体积会在短时间内随着睾酮和抑制素B水平的升高而增大。然而，在青春期期间，这些水平会下降，促卵泡生成素（FSH）会升高。这似乎表明存在一个关键时间点，此时睾丸的生精功能可能仍然存在。因此，在青春期早期可能会有一个时间段，此时可以在射精中检测到精子，或者——如果没有——至少在睾丸组织中检测到精子。这些精子可以通过睾丸精子提取术提取出来，冷冻保存，随后用于卵胞浆内单精子注射治疗。在文献中，总共报道了133例由克氏综合征父亲生育的孩子。这种早期的特定程序可能会使患者对自己的诊断有更好的接受度，并且还提供了不会完全不育的选择。
