“…' Porcu et al (19) reported the first pregnancy after ICSI using sperm with abnormal head-tail junction from two brothers whose parents were first cousins. Emery et al (30) recently demonstrated that pregnancy was possible with easily decapitated sperm-decapitated during immobilization before ICSI-if normal centrosomes were present and the head and midpiece were positioned close together inside the oocyte.…”
“…' Porcu et al (19) reported the first pregnancy after ICSI using sperm with abnormal head-tail junction from two brothers whose parents were first cousins. Emery et al (30) recently demonstrated that pregnancy was possible with easily decapitated sperm-decapitated during immobilization before ICSI-if normal centrosomes were present and the head and midpiece were positioned close together inside the oocyte.…”
“…The ICSI outcomes in case of spermatozoa with defects in head-tail connection result in the fertilization of oocytes, but owing to the lack of pronuclei syngamy, embryo development does not occur [Chemes et al 1999;Saias-Magnan et al 1999;Rawe et al 2002;Chemes and Rawe 2003]. A number of pregnancies have been achieved probably because the injected sperm head was associated with a normal centriolar area [Porcu et al 2003;Emery et al 2004;Gambera et al 2010].…”
This review is aimed at discussing the role of ultrastructural studies on human spermatozoa and evaluating transmission electron microscopy as a diagnostic tool that can complete andrology protocols. It is clear that morphological sperm defects may explain decreased fertilizing potential and acquire particular value in the field of male infertility. Electron microscopy is the best method to identify systematic or monomorphic and non-systematic or polymorphic sperm defects. The systematic defects are characterized by a particular anomaly that affects the vast majority of spermatozoa in a semen sample, whereas a heterogeneous combination of head and tail defects found in variable percentages are typically non-systematic or polymorphic sperm defects. A correct diagnosis of these specific sperm alterations is important for choosing the male infertility's therapy and for deciding to turn to assisted reproduction techniques. Transmission electron microscopy (TEM) also represents a valuable method to explore the in vitro effects of different compounds (for example drugs with potential spermicidal activity) on the morphology of human spermatozoa. Finally, TEM used in combination with immunohistochemical techniques, integrates structural and functional aspects that provide a wide horizon in the understanding of sperm physiology and pathology.
“…This distinguishes the RPGR overexpression phenotype from that of ''easily decapitated sperm syndrome,'' where the basal plate does not form and the fully developed flagellum loses its attachment to the sperm head [51].…”
Section: Defects In Periaxonemal Structuresmentioning
Male infertility is one possible consequence of a group of disorders arising from dysfunction of cilia. Ciliopathies include primary ciliary dyskinesia, polycystic kidney disease, Usher syndrome, nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome as well as some forms of retinal degenerations. Mutations in the retinitis pigmentosa GTPase regulator gene (RPGR) are best known for leading to retinal degeneration but have also been associated with ciliary dysfunctions affecting other tissues. To further study the involvement of RPGR in ciliopathies, transgenic mouse lines overexpressing RPGR were generated. Animals carrying the transgene in varying copy numbers were investigated. We found that infertility due to aberrant spermatozoa correlated with increased copy numbers. In animals with moderately increased gene copies of Rpgr, structural disorganization in the flagellar midpiece, outer dense fibers, and fibrous sheath was apparent. In contrast, in animals with high copy numbers, condensed sperm heads were present, but the flagellum was absent in the vast majority of spermatozoa, although early steps of flagellar biogenesis were observed. This complexity of defects in flagellar assembly suggests a role of RPGR in intraflagellar transport processes.
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