Complete globozoospermia associated with PLCζ deficiency treated with calcium ionophore and ICSI results in pregnancy.

Complete globozoospermia associated with PLCζ deficiency treated with calcium ionophore and ICSI results in pregnancy.
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DOI:
10.1016/j.rbmo.2009.12.024
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发表时间:
2010-04
影响因子:
4
通讯作者:
Oehninger S
Oehninger S
中科院分区:
医学2区
文献类型:
--
作者:
Taylor SL;Yoon SY;Morshedi MS;Lacey DR;Jellerette T;Fissore RA;Oehninger S

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球型精子症是一种罕见的疾病,其精子缺乏顶体。如果没有体外受精和卵胞浆内单精子注射(ICSI),患者被认为是不育的,因为没有卵母细胞激活而导致受精障碍。就目前所知,这是第一次报道对受影响患者的精液参数、精子DNA片段化、非整倍体、透射电子显微镜、Western blotting和免疫荧光检测磷脂酶C Zeta(PLCζ)以及ICSI结果的综合治疗结果。形态评估和透射电子显微镜显示完全球精症,有明显的重复的头部和尾部。DNA损伤分析显示,精液中的碎片率约为80%,上游部分的碎片率为15%-23%。免疫荧光和Western blotting均未检测到PLCζ。异倍体率在正常范围内。ICSI后用钙离子载体激活卵母细胞导致高受精率,并在移植冷冻-解冻胚胎后建立持续妊娠。
Globozoospermia is an infrequent pathology in which spermatozoa lack acrosomes. Patients are considered sterile without IVF augmented with intracytoplasmic sperm injection (ICSI), as fertilization is impaired due to absence of oocyte activation. As far as is known, this is the first study to report results of a comprehensive approach to the treatment of the semen parameters, sperm DNA fragmentation, aneuploidy, transmission electron microscopy, Western blotting and immunofluorescence for detection of phospholipase C zeta (PLCζ), as well as ICSI outcome, of an affected patient. Morphological evaluation and transmission electron microscopy revealed complete globozoospermia with significant duplicate heads and tails. Analysis for DNA damage revealed fragmentation rates of approximately 80% in semen and 15–23% in swim-up fractions. PLCζ was not detected by immunofluorescence or Western blotting. Aneuploidy rates were within normal ranges. ICSI followed by oocyte activation with calcium ionophore resulted in high rates of fertilization, and an ongoing pregnancy was established after transfer of cryopreserved–thawed embryos.
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