E. Mazeman

Bio: E. Mazeman is an academic researcher. The author has contributed to research in topics: Cystic fibrosis & Congenital absence of the vas deferens. The author has an hindex of 1, co-authored 2 publications receiving 69 citations.

L’agenesie bilaterale congenitale des deferents a l’heure de I’ICSI

Abstract: L’agenesie bilaterale congenitale des deferents est l’anomalie la plus frequente des voies genitales masculines. Le diagnostic est clinique, le bilan spermiologique associe azoospermie, hypospermie, pH acide, marqueurs epididymaires bas. Le bilan morphologique recherche une anomalie des vesicules seminales et une agenesie renale. Une mutation du gene CFTR est retrouvee dans plus de 70% des cas. Un conseil genetique s’impose avant toute aide medicale a la procreation. Les resultats de l’ICSI avec sperme preleve chirurgicalement sont les memes que dans les autres causes d’azoospermies excretoires.

Cystic Fibrosis

Abstract: Cystic fibrosis is the most common autosomal recessive disorder in white people, with a frequency of about 1 in 2500 livebirths. Discovery of the mutated gene encoding a defective chloride channel in epithelial cells--named cystic fibrosis transmembrane conductance regulator (CFTR)--has improved our understanding of the disorder's pathophysiology and has aided diagnosis, but has shown the disease's complexity. Gene replacement therapy is still far from being used in patients with cystic fibrosis, mostly because of difficulties of targeting the appropriate cells. Life expectancy of patients with the disorder has been greatly increased over past decades because of better notions of symptomatic treatment strategies. Here, we summarise advances in understanding and treatment of cystic fibrosis, focusing on pulmonary disease, which accounts for most morbidity and deaths.

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

Abstract: Objective. —Almost all males with cystic fibrosis (CF) have absent vasa deferentia. It has been suggested that otherwise healthy males with congenital bilateral absence of the vas deferens (CBAVD), previously considered a distinct genetic entity, have an increased frequency of CF gene mutations. This study examined the genetic commonality of these two disorders. Design. —We typed six common CF gene mutations in 25 patients with CBAVD. Additional rare mutations were sought using single-stranded conformation polymorphisms and direct DNA sequencing. When rare mutations were found, they were sought in a large sample of both CF patients and obligate CF carriers to exclude them as polymorphisms. Setting. —All the patients presented to a male infertility clinic of a teaching hospital. Subjects. —Twenty-five unselected, unrelated azoospermic men with CBAVD, most of them of Northern European ancestry. Results. —Sixteen (64%) of the 25 men with CBAVD had at least one detectable CF mutation, 16 times the expected frequency (P Conclusions. —Some, if not all, otherwise healthy men with CBAVD reflect a newly recognized, primarily genital, phenotype of CF. Prior to sperm aspiration to remedy infertility, CF mutation analysis should be recommended for them and their partners, as well as for their relatives. (JAMA. 1992;267:1794-1797)

The use of epididymal and testicular spermatozoa for intracytoplasmic sperm injection : the genetic implications for male infertility.

Abstract: The results and rationale of using testicular and epididymal spermatozoa with intracytoplasmic sperm injection (ICSI) for severe cases of male infertility are reviewed. A total of 72 consecutive microsurgical epididymal sperm aspiration (MESA) cases were performed for congenital absence of the vas (CAV) and for irreparable obstructive azoospermia. ICSI was used to obtain normal embryos for transfer and fertilization in 90% of the cases. The overall fertilization rate was 46% with a normal cleavage rate of 68%. The pregnancy and delivery rates per transfer were 58 and 37% respectively. The delivery rate per cycle was 33%. In many cases, no epididymal spermatozoa were available and so testicular sperm extraction (TESE) was used for sperm retrieval. The transfer rate was lower with TESE (84 versus 96%) and the spermatozoa could not be frozen and saved for use in future cycles. However, there was little difference in pregnancy rates using epidiymal or testicular spermatozoa. The results were not affected by whether the obstruction was caused by CAV or failed vasoepididymostomy. Both fresh and frozen spermatozoa gave similar results ; the only significant factor appeared to be the age of the female. Because of the consistently good results obtained using epididymal sperm with ICSI when compared with conventional IVF, and the similarly good results with testicular tissue spermatozoa, ICSI is mandatory for all future MESA patients. All CAV patients and their partners should be offered genetic screening for cystic fibrosis ; hence pre-implantation embryo diagnosis should be available in any full service MESA programme. It is now clear that even with non-obstructive azoospermia, e.g. Sertoli-cell only, or maturation arrest, there are usually some small foci of spermatogenesis which allow TESE with ICSI to be carried out. This means that even in men with azoospermia due to absence of spermatogenesis or to a block in meiosis, there are usually a few spermatozoa available in the testes that are adequate for successful ICSI. Finally, it is likely that some forms of severe male factor infertility are genetically transmitted and although ICSI offspring have been shown to be completely normal, it is possible that the sons of these infertile couples will also require ICSI when they grow up and wish to have a family.