title: Isolated teratozoospermia: a cause of male sterility in the era of ICSI?
abstract: Single structural defects involving the totality of ejaculated sperm are among rare cases of untreatable human male infertility. This form of infertility is of genetic origin and is generally transmitted as an autosomal recessive traits. Acrosome agenesis or globozoospermia results from perturbed expression of nuclear proteins or from an altered Golgi-nuclear recognition during spermiogenesis. Failed fertilization after intracytoplasmic sperm injection (ICSI) of acrosomeless sperm is consistent with an inability of sperm to activate oocytes. Acephalic spermatozoa result from a head-neck defect due to a failure of migration of the tail anlagen and related centriole to the caudal pole of spermatids. An abnormal sperm centrosome function may explain the defective embryo cleavage after ICSI with sperm carrying a fragile head-neck junction. Primary cilia dyskinesia (PCD) and dysplasia of the fibrous sheath (DFS) are isolate defects associated with absent or greatly reduced sperm motility due to an abnormal ciliary structure and function (PCD) or to a disorganized fibrous sheath (DFS). Numerous defective genes are potentially involved in human isolated teratozoospermia but such defects have not been defined at the molecular level in most cases. IVF-ICSI is the only available method for obtaining live births with sperm carrying these defects, but the outcome is poor and the genetic risk for the subsequent generation can not be determined.
authors.affiliation: Department of Internal Medicine, Andrology Unit, University of L'Aquila, Piazzale Tommasi, Coppito, 67100 L'Aquila, Italy. sandrof@univaq.it
authors.forename: Sandro
authors.initials: S
authors.lastname: Francavilla
authors.forename: Giuliana
authors.initials: G
authors.lastname: Cordeschi
authors.forename: Fiore
authors.initials: F
authors.lastname: Pelliccione
authors.forename: Massimo
authors.initials: M
authors.lastname: Bocchio
authors.forename: Felice
authors.initials: F
authors.lastname: Francavilla
mesh_terms: D000177:Acrosome / Q000648:ultrastructure; D000818:Animals; D053627:Asthenozoospermia / Q000473:pathology; D004195:Disease Models, Animal; D006801:Humans; D007248:Infertility, Male / Q000209:etiology / Q000473:pathology* / Q000628:therapy; D008297:Male; D013077:Sperm Head / Q000648:ultrastructure; D020554:Sperm Injections, Intracytoplasmic; D013082:Sperm Tail / Q000648:ultrastructure; D013094:Spermatozoa / Q000648:ultrastructure*