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Study design: Male infertility caused by anejaculation is common among patients with spinal cord injury (SCIP). The fertility options for SCIP have improved impressively over the past 10 years. We present the Israeli experience in the treatment of infertility in a large series of SCIP. The issues which are addressed include the treatment of ejaculatory dysfunction, seminal quality and fertility management in SCIP. Setting: Sexual rehabilitation clinic, Neuro-Rehabilitation department, Sheba Medical Center, Israel. Methods: Between June 1992 and May 1998, a total of 84 consecutive SCIP were treated in our clinic with electro-ejaculation (EEJ), representing a sample of the SCIP population, composed mostly of young men traumatically injured. The patients have sustained different levels and completeness of spinal injury. Among the patients 33 were interested in achieving pregnancy (39.3%), while the rest were interested in determining fertility potential for family. With EEJ, a low-current stimulation of the ejaculatory organs via a rectal probe is done. The collected semen is used for fertility determination or for fertilization. Results: Eighty-four patients were treated by EEJ. Mean age was 31.3 and mean age at injury was 21.7. There were 29 cervical, 50 thoracic and five lumbar lesions. Sixty-three had complete injury (ASIA A) and 21 incomplete (ASIA B -15, ASIC C -5, ASIA D -1). Fifty-nine had upper motor neuron lesions, and 25 had lower motor neuron. A total of 355 stimulations were performed. Ejaculate was obtained in all patients in 350 stimulations (98.6%), and sperm was present in 74 patients (88.1%) in 296 of the stimulations (83.4%). Fairly good numbers of spermatozoa were obtained, whereas sperm motility and morphology of spermatozoa were low in most cases. A significant difference in sperm count, motility and morphology was noted between antegrade and retrograde samples. No significant improvement in sperm quality after four repeated consecutive stimulations was noted in 38 SCIP. Side effects were minor and encountered in 16 patients (19.1%). Out of 33 couples who wished to achieve pregnancy, 26 reached the stage of insemination. Four pregnancies were achieved after 33 cycles of In-Uterine-Insemination (pregnancy rate 28.6% per couple), and 15 after 68 cycles of In-Vitro-Fertilization (micromanipulation) (pregnancy rate of 68.75% per couple). In all, of 101 conception attempts 23 were successful, resulting in pregnancies in 18 couples, and accounting for an overall pregnancy rate of 70% per couple. Conclusion: The high percentage of pregnancies imply that, despite the typically poor sperm motility noted in EEJ, rectal probe EEJ combined with assisted reproductive techniques, and performed by a team approach, is an efficient and safe technique for treating infertility among SCIP. Spinal Cord (2001) 39, 168–175.

Our purpose was to evaluate whether the source of spermatozoa influences the results of intracytoplasmic sperm injection (ICSI) treatment in couples with severe male-factor infertility.A retrospective analysis of 40 cases of ICSI with testicular-retrieved spermatozoa, matched with 40 cases of ICSI with ejaculated spermatozoa, was performed. We included only couples with normoovulatory females younger than 37 years who were matched according to the day of ovum pickup with the patients in the study group.Eighty cycles were analyzed: 40 cycles using testicular spermatozoa and 40 cycles using ejaculated spermatozoa. In 32 (80%) of the 40 ICSI transcutaneous needle aspiration cycles, we obtained enough spermatozoa to inject all the mature oocytes retrieved. In eight (20%) cases there were not enough spermatozoa to inject all the oocytes. Only 76 (54%) of 141 available oocytes were injected in these eight patients. The oocyte fertilization rates were 42% for the study group and 55.5% for the controls (P0.005). Thirty-six (90%) patients in the group with nonobstructive a zoospermia (NOA) and 37 (92.5%) patients in the oligoteratoasthenospermia (OTA) group had embryos for replacement. The mean cleavage rates per cycle (96% with testicular and 93% with ejaculated spermatozoa), the mean number of embryos per transfer (3.72 +/- 1.6 in the NOA group and 4.24 +/- 1.5 in the OTA group), the embryo quality (cumulative embryo scoring = 34.03 +/- 22.62 in the testicular sperm group and 36.08 +/- 19.28 in the ejaculated sperm group), and the clinical pregnancy rates (22.5% in the NOA patients and 20% in the ejaculate group) were not significantly different between groups.High fertilization, cleavage, and pregnancy rates can be achieved with intracytoplasmic testicular sperm injection from patients with NOA, reaching levels comparable with those of ICSI using ejaculated spermatozoa.

The splicing variant, 5T allele, in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene was shown to be associated with partial penetrance of the clinical expression. This splicing variant leads to two possible transcripts: one normal and the other aberrantly spliced that lacks exon 9. The aim of this study was to analyze the molecular basis of the partial penetrance in individuals carrying the 5T allele. We analyzed the level of the correctly spliced RNA transcribed from the 5T allele in nasal and epididymal epithelium and correlated it with disease expression. Semiquantitative nondifferential reverse-transcriptase-PCR showed a considerable variability (6%-37%) in the total level of correctly spliced RNA transcribed from the 5T allele in nasal epithelium from 11 patients. A significant nonlinear correlation (r = .82, P = .002) between the level of the normal CFTR transcripts and the severity of lung disease was shown. No individuals with normal lung function and minimal or no lung disease (FEV1 >80% predicted) had 80%. The level of normal transcripts in epididymal epithelial cells from four infertile males with congenital bilateral absence of the vas deferens was low (6%-24%). In infertile males with normal lung function the level of correctly spliced transcripts in the nasal epithelium was higher than the level in the epididymal epithelium. These results indicate that there is variability in the efficiency of the splicing mechanism, among different individuals and between different organs of the same individual. This variability provides the molecular basis of the partial penetrance of cystic fibrosis disease in patients carrying the 5T allele.