Yale Fertility Center, Yale University, New Haven, Connecticut 06511, USA.
Curr Opin Obstet Gynecol. 2013 Jun;25(3):229-46. doi: 10.1097/GCO.0b013e32835faae5.
To describe the reproductive outcomes of a heterogeneous group of male infertility conditions causing severe alterations in the sperm parameters (counts, motility, and morphology) because of chromosomal, genetic, or still unknown causes. Source of sperm, fertilization, pregnancy, live birth, and miscarriage rates of patients with Klinefelter's syndrome, Kartagener's syndrome, round-head sperm, dysplasia of the fibrous sheath (DFS), and stump-tail sperm were reviewed.
There are differences in the outcome according to the conditions and the source of sperm (ejaculated versus testicular). Klinefelter's syndrome patients have better reproductive outcomes when sperm is present in the ejaculate. Kartagener's syndrome shows better fertilization when testicular sperm is used; however, pregnancy rates and live births did not differ between ejaculated and testicular sperm. Samples with round-head sperm have a lower fertilization potential, pregnancy and live birth compared with Klinefelter's and Kartagener's syndromes. In men with DFS and stump-tail sperm, the reproductive outcome is poor, with low fertilization and very few babies born.
In Klinefelter's and Kartagener's syndrome, the fertilization potential and the live-birth rate are close to that obtained from nonspecific causes of sperm defects. Round-head sperm shows a lower fertility potential, but the addition of assisted oocyte activation and the use of intracytoplasmic morphologically selected sperm injection increased the rates of live birth. Conditions such as DFS and stump tail have a poor prognosis, but the number of cases described in the literature is too limited for drawing final conclusions.
描述因染色体、遗传或未知原因导致精子参数(数量、活力和形态)严重改变的男性不育症的生殖结局。对 Klinefelter 综合征、Kartagener 综合征、圆头精子症、纤维鞘发育不良(DFS)和残尾精子症患者的精子来源、受精、妊娠、活产和流产率进行了综述。
根据不同的情况和精子来源(射出精液或睾丸),结果存在差异。有精子存在于射出精液中的 Klinefelter 综合征患者具有更好的生殖结局。当使用睾丸精子时,Kartagener 综合征显示出更好的受精率;然而,射出精液和睾丸精子的妊娠率和活产率没有差异。与 Klinefelter 综合征和 Kartagener 综合征相比,圆头精子症的受精潜能、妊娠和活产率较低。在患有 DFS 和残尾精子症的男性中,生殖结局较差,受精率低,出生婴儿极少。
在 Klinefelter 综合征和 Kartagener 综合征中,受精潜能和活产率接近非特异性精子缺陷原因的结果。圆头精子症显示出较低的生育潜能,但辅助卵母细胞激活的应用和使用形态选择精子注射可提高活产率。DFS 和残尾等情况预后较差,但文献中描述的病例数量有限,无法得出最终结论。