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[Follicle-stimulating hormone in azoospermia in prediction of spermatogenic patterns].

Follicle-stimulating hormone (FSH) is considered to be the most important plasma hormone correlated with spermatogenesis. Elevated FSH plasma levels were shown to be associated with complete damage to testicular seminiferous tubule germinal epithelium. Recently, there have been conflicting reports with regard to the value of FSH plasma levels in predicting seminiferous tubule histology in the azoospermic patient and hence, as a guide for therapy in assisted reproduction using testicular sperm retrieval. The aim of this study was to evaluate whether FSH plasma levels can predict spermatogenic pattern in the testes of the azoospermic infertile patient. 69 infertile men with non-obstructive azoospermia and 18 with very severe oligospermia were studied. In all, plasma levels of testosterone, free testosterone, prolactin, luteinizing hormone and follicle-stimulating hormone were measured by enzyme immunoassay. In the azoospermic patients the seminiferous tubule spermatogenic pattern was determined in testicular aspirates obtained by multiple fine needle aspiration and categorized according to the most mature spermatogenic cell type in the aspirates: Sertoli cells only, spermatogenic maturation arrest or full spermatogenesis. There were no significant differences in plasma levels of any hormone measured except in very severely oligospermic and azoospermic patients. Both normal and elevated levels were detected in all, regardless of seminiferous tubule cytological pattern or plasma FSH in azoospermic patients. It is concluded that plasma levels of FSH can not be used as a predictive parameter, neither for the presence of spermatozoa nor for any other seminiferous tubule cytological pattern in azoospermic infertile men. They cannot serve as guides for selection of azoospermic men for trials of testicular sperm retrieval in assisted reproduction.

Adult↗

Cumulative delivery rates after ICSI treatment cycles with freshly retrieved testicular sperm: a 7-year follow-up study.

BACKGROUND: The purpose of this study was to assess cumulative delivery rates in patients with non-obstructive or obstructive azoospermia following treatment by testicular sperm extraction (TESE)-ICSI. METHODS: A cohort follow-up study was conducted. Between January 1994 and December 2000, 364 couples with obstructive azoospermia underwent a total of 609 fresh TESE-ICSI treatment cycles. In addition, 303 fresh TESE-ICSI treatment cycles were performed in 235 couples for non-obstructive azoospermia. This study included only patients in whom sperm was recovered. In the non-obstructive group, only patients with maturation arrest, atrophic sclerosis and germ cell aplasia were included. The main outcome measure was a delivery beyond 25 weeks gestation. RESULTS: In patients with obstructive azoospermia, the crude delivery rate after three cycles was 35% while the expected cumulative delivery rate was 48% [95% confidence interval (CI), 41-55]. On the other hand, in patients with non-obstructive azoospermia, the crude cumulative delivery rate after three treatment cycles was 17% while the expected delivery rate was 31% (95% CI, 15-46). A high dropout rate in couples with both non-obstructive and obstructive azoospermia was observed (75 and 50% respectively, after the first cycle). CONCLUSION: This study shows that there is a value in performing several TESE-ICSI attempts in patients with obstructive and non-obstructive azoospermia. The estimates of the non-obstructive group beginning from the third cycle are less reliable due to fewer patients. However, overall, the obstructive group performed better than the non-obstructive group.

Delivery, Obstetric↗

Testicular-sparing microsurgery for suspected testicular masses.

OBJECTIVE: To describe a microsurgical technique for removing suspected testicular masses with sparing of the testicular parenchyma, and to describe case studies. PATIENTS AND METHODS: Six men were referred with testicular lesions (3-6 mm) detected on ultrasonography (US); in one, the lesion was palpable. US showed hypoechoic lesions and in two cases were mixed hypoechoic and anechoic. In these men, the testicular lesion was identified by US before surgery, giving three-dimensional coordinates to facilitate intraoperative recognition. A traditional inguinal incision was used and the funiculus clamped subinguinally without opening the canal. The testicle was isolated after sectioning the gubernaculum testis. In a separate operative field, an equatorial incision of the albuginea was made in a plane orthogonal to the major axis of the testicle, sparing the subtunical vasa. The parenchymal lobuli were dislodged and the seminiferous tubules dissociated, the nodule identified and completely removed, together with approximately 1 mm of surrounding healthy tissue. This technique can also be used for microsurgical testicular sperm extraction (MicroTESE), to retrieve sperm in infertile men. RESULTS: In two infertile men MicroTESE was also performed. Histology revealed one case each of seminoma, Leydig-cell tumour, Leydig cell hyperplasia, atrophy, normality in the incidental forms, and complicated cysts of the albuginea. In the follow-up for infertility reasons, no scarring was observable on the tunica albuginea in the men who had conservative therapy. One year later the patient with seminoma was free of disease. CONCLUSIONS: The increasingly frequent detection of benign testicular lesions, particularly in infertile men, calls for a surgical approach that must be as conservative as possible for the testicular parenchyma. We think that microsurgery should be the first-line technique in small suspected testicular lesions in infertile men.

Adult↗

[Retrieval and cryopreservation of testicular sperm].

We reviewed 44 cases of non-obstructive azoospermia treated by testicular sperm extraction and intracytoplasmic sperm injection (ICSI) from July, 1997 to September 1999 at our institutes. Testicular sperm were retrieved from 32 patients (72.7%). ICSI was performed on 29 patients and the partners of 15 patients (46.9%) became pregnant. Out of 10 patients with histology of Sertoli-cell-only, we could retrieve sperm from 3 patients (30%). Testicular volume, Johnsen's score count (JSC), and FSH were significant parameters to predict the recovery of testicular sperm from the patients, but if only the patients with JSC less than 8, are analyzed, none of them was significant parameter. Chromosomal abnormality was not a significant parameter. The partner's age, motility of recovered sperm and testicular volume correlated with the fertilization rate. Chromosomal abnormality or the usage of cryopreserved sperm was not a significant parameter to predict fertilization.

Adult↗

Testis sperm extraction and intracytoplasmic sperm injection guided by prior fine-needle aspiration mapping in patients with nonobstructive azoospermia.

OBJECTIVE: To evaluate intracytoplasmic sperm injection (ICSI) outcomes in a cohort of men with nonobstructive azoospermia who underwent prior fine-needle aspiration (FNA) "maps" to localize sperm and guide testis sperm extraction (TESE). DESIGN: Retrospective clinical study. SETTING: University-based infertility practice. PATIENT(S): A consecutive cohort of 19 infertile, azoospermic men. INTERVENTION(S): Couples underwent IVF-ET in which TESE procedures were informed and directed by prior FNA maps of the testis. MAIN OUTCOME MEASURE(S): Sperm retrieval and pregnancy rates. RESULT(S): In 21 IVF-ET and ICSI cycles, sufficient sperm for all oocytes were retrieved in 20 TESE attempts (95%). A mean of 3.1 biopsies per patient were required, with an average size of 72 mg. Mean operative time for the TESE procedure was 88 minutes. Overall, the two-pronuclear fertilization rate was 66%; ongoing clinical pregnancies were obtained in 10 of 21 initiated cycles (48%). CONCLUSION(S): In an effort to reduce IVF-ET cancellation rates in cases of nonobstructive azoospermia, diagnostic testis FNA can define those patients who are good candidates for TESE. It also directs sperm retrieval and minimizes tissue removal from nonobstructed testes.

Adult↗

Testicular sperm extraction with intracytoplasmic sperm injection is successful for the treatment of nonobstructive azoospermia associated with cryptorchidism.

PURPOSE: We evaluated the results of testicular sperm extraction (TESE) with intracytoplasmic sperm injection (ICSI) in men with nonobstructive azoospermia (NOA) associated with cryptorchidism. MATERIALS AND METHODS: A total of 321 TESE attempts were done in 275 men with confirmed nonobstructive azoospermia to recover spermatozoa for ICSI between November 1995 and December 2001. Of these patients 38 with a diagnosis of cryptorchidism underwent 47 sperm extraction attempts. The remaining 237 men with a total of 274 associated TESE attempts had various other etiologies for NOA. The outcome measures studied were the sperm retrieval, fertilization, pregnancy and miscarriage rates after ICSI. Serum follicle stimulating hormone (FSH), testicular volume and age at orchiopexy (in the cryptorchid group) were examined as predictive factors for sperm recovery. RESULTS: In the cryptorchid cohort spermatozoa were successfully retrieved at 35 of 47 TESE attempts (74%) with fertilization in 214 of 347 metaphase II oocytes (62%). Clinical pregnancies resulted for 16 of 35 cycles (46%) when sperm were retrieved, with ongoing pregnancies or deliveries in 15 of the 35 (43%). Spermatozoa recovery correlated with testicular volume (p <0.05) and patient age at orchiopexy (p <0.001) but it was independent of serum FSH. In the noncryptorchid subgroup spermatozoa were successfully retrieved at 160 of 274 TESE attempts (58%) with fertilization in 983 of 1,657 metaphase II oocytes (59%). Clinical pregnancies were documented for 71 of 160 cycles (44%) when sperm were retrieved, with ongoing pregnancies or deliveries in 58 of 160 the (36%). Spermatozoa recovery was independent of testicular volume and serum FSH. Patients with a history of cryptorchidism had better TESE sperm retrieval rates (p <0.05) but no significant difference in the fertilization, pregnancy or miscarriage rate. CONCLUSIONS: TESE with ICSI is a successful treatment modality for men with NOA associated with cryptorchidism. Spermatozoa were retrieved in 74% of attempts with a resulting clinical pregnancy in 46% of these cases. These results are comparable if not better to those in noncryptorchid patients with NOA. Testicular volume and age at orchiopexy were identified as independent predictors of sperm retrieval for men with a history of cryptorchidism.

Adult↗

The motility of epididymal or testicular spermatozoa does not directly affect IVF/ICSI pregnancy outcomes.

Our objective was to determine whether the presence of motility in surgically obtained sperm samples improves fertilization and pregnancy rates for patients undergoing in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI). This was a retrospective study in a hospital-based infertility center. Sixty-seven couples with a diagnosis of azoospermia or severe oligozoospermia who had undergone a sperm retrieval procedure in conjunction with 100 IVF/ICSI cycles from 1995 to 2004 were evaluated. The impact of sperm motility on fertilization and clinical pregnancy rates was determined. The motile and nonmotile sperm groups differed in the number of mature oocytes retrieved (10.7 +/- 5.8 vs 13.4 +/- 6.0), but fertilization (56.7% vs 59.1%) and embryo cryopreservation rates (35.9% vs 39.3%) were statistically similar. Clinical pregnancy rates did not differ between the motile (38.5%) and nonmotile (31.2%) groups, nor did they differ between obstructive and nonobstructive patients (35.3% vs 26.7%). There was also no statistical difference in pregnancy rates between testicular and epididymal aspiration (35.3% vs 26.7%), although epididymal sperm were significantly more likely to be motile than testicular sperm (100% vs 39.3%, P < .0001). Epididymal aspiration is more likely to produce motile sperm than testicular sperm retrieval. The use of motile sperm from epididymal or testicular samples, however, does not appear to enhance fertilization or clinical pregnancy rates.

Adult↗

Testicular origin of immunobead-reacting antigens in human sperm.

OBJECTIVE: To investigate, by means of immunobinding technique, the antigenic surface expression of human vasa efferentia sperm as compared with that of ejaculated sperm. DESIGN: Briefly, vasa efferentia sperm, retrieved microsurgically, and donors' ejaculated sperm (controls) were used. PATIENTS, PARTICIPANTS: Men with congenital absence of the vas deferens, undergoing sperm aspiration as part of their infertility treatment, and controls who were donors of our sperm bank were first assayed by direct immunobead test and, if found negative, were exposed to sera containing known high titers of antisperm antibodies and then retested by indirect immunobead test. RESULTS: The data showed no difference in binding titers and class of immunoglobulins between vasa efferentia and ejaculated sperm. CONCLUSIONS: These findings suggest that, in humans, sperm acquire those surface antigens commonly detected by immunobinding test within the testes before their transit through the epididymis.

Epididymis↗

Penetration of zona-free hamster oocytes using human sperm aspirated from the epididymis of men with congenital absence of the vas deferens: comparison with human in vitro fertilization.

OBJECTIVES: To assess the ability of sperm aspirated from the epididymis of men with congenital absence of the vas deferens to penetrate zona-free hamster oocytes. To directly compare the performance of human epididymal sperm in the zona-free hamster oocyte sperm penetration assay (SPA) with the results of human in vitro fertilization (IVF). DESIGN: Sperm penetration assay was carried out with epididymal sperm retrieved microsurgically, and with ejaculated sperm obtained from fertile donors (internal controls). For direct comparison, SPA was performed with the same epididymal sperm sample used for IVF. PATIENTS, PARTICIPANTS: Men with congenital absence of the vas deferens undergoing sperm aspiration as part of their infertility treatment and control donors who provided ejaculated sperm. RESULTS: Epididymal sperm penetrated SPA with a score of 0% to 30%. The SPA scores for internal controls using ejaculated sperm was 30% to 71%. Linear regression analysis of the association between penetration scores in SPA and fertilization rate in IVF indicated a positive correlation that was highly significative. CONCLUSIONS: These findings using SPA confirm previous reports on the fertilizing potential of human epididymal sperm and its ability to produce normal pregnancies. The good correlation between SPA and human IVF using epididymal sperm suggest that SPA is an excellent bioassay to test laboratory experimental conditions for improving fertilizing capacity of human epididymal sperm.

Adult↗

Cumulative ongoing pregnancy rate in intracytoplasmic sperm injection cycles.

AIM: We investigated the cumulative probability of ongoing pregnancy in intracytoplasmic sperm injection (ICSI) cycles. METHODS: During a period of 6 years, 519 ICSI cycles were performed in 260 infertile couples at the Seoul National University Hospital. The cumulative rate of ongoing pregnancy (> or =12 weeks of gestation) was estimated by the Kaplan-Meier method. RESULTS: The cumulative ongoing pregnancy rate was 54.9% after six consecutive cycles of ICSI. The age of the female had a significant impact; after five consecutive cycles, cumulative ongoing pregnancy rate was 61.8% in < or =30 years of age, 51.7% in 31-35, and 15.3% in > or =36. There was no significant difference in the cumulative ongoing pregnancy rate between groups with severe male factor and previous unexplained low fertilization rate (< or =20%). Among the severe male factor group, cumulative ongoing pregnancy rate was not different according to the methods of sperm retrieval (surgically retrieved or ejaculated). CONCLUSION: Intracytoplasmic sperm injection could be applied successfully both to severe male factor and patients with previous unexplained low fertilization rate. The origin of spermatozoa does not affect ICSI outcome in terms of cumulative probability of ongoing pregnancy.

Adult↗

[Ovum fertilization using surgically obtained sperm: additional risk to offspring unlikely with meticulous procedure].

In the Netherlands a presumed higher risk of transmission of genetic abnormalities to the offspring in programmes of intracytoplasmatic sperm injection (ICSI) using surgically retrieved sperm (microscopic epididymal sperm aspiration (MESA) or testicular sperm extraction (TESE)) has triggered a moratorium. However, the ICSI-MESA/TESE-programme should be resumed under conditions for the following reasons: the source of the sperm is not a accurate standard of its genetic contents: the cause of the male infertility and the morphology and function of the injected spermatozoon appear to be better criteria; animal experiments and clinical results are reassuring as to the proposed risk; it is uncertain whether the complex genetical mechanisms involved in spermiogenesis and sperm maturation can be unraveled in the laboratory in due course; the exodus of patients to neighbouring countries will be stopped and biological material necessary for human research will become available. The conditions are that (a) only morphologically normal and motile sperm should be used, (b) ICSI should be preceded by genetical screening and succeeded by long term follow up of the offspring.

Chromosome Aberrations↗

Testicular sperm extraction and intracytoplasmic sperm injection: a chance of fertility in nonobstructive azoospermia.

PURPOSE: We evaluate the efficacy of testicular sperm extraction and results of intracytoplasmic sperm injection in cases of nonobstructive azoospermia. In addition, we define predictive parameters for successful testicular sperm extraction in these patients. MATERIALS AND METHODS: A total of 154 patients with nonobstructive azoospermia underwent multiple testicular biopsies to obtain testicular spermatozoa and for histopathological diagnosis. Results of testicular sperm extraction were related to suspected etiology of azoospermia, patient age, maximal testicular volume, serum follicle-stimulating hormone and histopathology. When testicular sperm extraction was successful, intracytoplasmic sperm injection was performed. RESULTS: Spermatozoa were obtained from 63 patients (41%). No potential predictive parameters precluded successful testicular sperm retrieval. Fertilization was achieved in 74 of 76 intracytoplasmic sperm injection cycles. Normal 2 pronuclear fertilization was observed in 55% of the intact oocytes after microinjection. Clinical pregnancies were achieved in 21 cases for a pregnancy rate of 28% per started cycle. There were 4 miscarriages and 11 live births from 9 deliveries. In addition, a set of twins died after birth because of prematurity. Seven pregnancies were ongoing. CONCLUSIONS: Men with nonobstructive azoospermia may have areas of preserved spermatogenesis in the testicles, and these spermatozoa can be retrieved for intracytoplasmic sperm injection. Although some clinical and histopathological parameters are associated with significantly different sperm recovery rates, it is not possible to predict with certainty the outcome of testicular sperm extraction in an individual patient. If testicular sperm extraction is successful, intracytoplasmic sperm injection offers the chance of pregnancy to these otherwise intractably infertile couples.

Adult↗

Detection of calretinin expression in abnormal immature Sertoli cells in non-obstructive azoospermia.

The current study identified for the first time calretinin expression in abnormal Sertoli cells of azoospermic men who underwent testicular biopsy for sperm recovery and application of the retrieved sperm by in vitro fertilization techniques. Testicular biopsies with various spermatogenic impairments were evaluated immunohistochemically for the expression of the calretinin calcium-binding protein and the marker for immaturity of Sertoli cells, cytokeratin-18 (CK-18). Distribution of the markers was assessed in testes demonstrating a histological phenotype of mixed atrophy, Sertoli cell-only, or normal spermatogenesis (obstructive-azoospermia) and in men carrying a deletion in the azoospermia factor region located on the Y chromosome. Calretinin-immunopositive immature Sertoli cells revealed by co-localization of both markers, calretinin and CK-18, were identified in the mixed atrophy group in seminiferous tubules demonstrating spermatogenic failure. Sertoli cells expressing both markers were rarely detected in all other groups. Leydig cells in all the assessed biopsies expressed calretinin and served as a built-in control for immunoreactivity. This pattern of calretinin-selective expression in immature Sertoli cells suggests a functional relationship between calretinin expression and the degree of Sertoli cell differentiation. Disorders of Sertoli cell differentiation as indicated by calretinin and/or CK-18 expression contribute to the multifactorial mechanisms underlying spermatogenic failure.

Biopsy↗

Evaluation and treatment of infertility in spinal cord injured men through rectal probe electroejaculation.

A total of 18 men older than 19 years with spinal cord injury was evaluated for fertility potential with testing of semen obtained by rectal probe electroejaculation. After fertility testing, including sperm penetration assay, semen cryopreservation and sperm antibody status, 6 of the 18 men proceeded with their partners to use rectal probe electroejaculation in efforts to conceive. Sperm was obtained in 16 of 18 cases. Average ejaculate total sperm count (306 million) was good but motility (22%) was poor. Adequate sperm retrieval after processing yielded a normal sperm penetration assay in 4 of 16 cases (25%) in which sperm were obtained. Favorable semen cryopreservation (greater than 33% of pre-freeze motility noted after thaw) was present in 5 of 16 cases (31%). Live births were achieved in 2 of 6 couples attempting conception. Despite the typically poor sperm motility noted in electroejaculates, rectal probe electroejaculation can result in pregnancies from couples involving spinal cord injured men. The sperm penetration assay data indicate that pregnancy should be achievable in at least 25% of spinal cord injured couples. Achieving these conceptions requires a team approach involving a urologist/andrologist, gynecologist/reproductive endocrinologist and a sperm-processing laboratory.

Adult↗

A prospective study of multiple needle biopsies versus a single open biopsy for testicular sperm extraction in men with non-obstructive azoospermia.

Little is known about the efficacy and the factors affecting the outcome of fine needle aspiration biopsy of the testis for sperm retrieval in azoospermic men with defective spermatogenesis. A prospective study was designed to compare the efficacy of needle and open (window) testicular biopsies for testicular epididymal sperm extraction (TESE) in 35 consecutive men with azoospermia due to defective spermatogenesis undergoing testicular biopsy for intracytoplasmic injection of oocytes. Each of the consecutive 35 patients underwent TESE using a 19 gauge butterfly needle followed by a window (1-1.5 cm-sized incision) testicular biopsy in the same procedure. The extraction of spermatozoa into culture medium was compared with the assessment of testicular biopsies by histology, the mode of biopsy (needle or open biopsy) and the amount of tissue retrieved by either method. Testicular spermatozoa were retrieved in 22 (63%) who had an open testicular biopsy compared with five (14%) patients who had multiple needle biopsies, respectively; the difference was statistically significant. Open testicular biopsy retrieves more testicular tissue than needle biopsy. Needle testicular biopsy retrieved testicular spermatozoa in 50% of those with hypospermatogenesis, 10% with focal spermatogenesis and in no patients with maturation arrest or Sertoli cell-only pattern. In contrast, sperm retrieval was successful in 100%, 90% and 66% of those with respective histologies using open testicular biopsy. Other than bruising, for which they required no analgesia, none of the patients suffered any obvious complications associated with traditional testicular biopsy. We conclude that open testicular biopsy is more effective than needle biopsy for the retrieval of testicular spermatozoa in azoospermic men with defective spermatogenesis. The difference observed may be related to the amount of testicular tissue retrieved and to the influence of testicular histology.

Biopsy↗

Electroejaculation in spinal cord injured males.

Electroejaculation is a newly developed method to retrieve sperm in anejaculatory spinal cord injured (SCI) males. We studied 25 completely traumatic SCI males from August 1990 to May 1991. The patients' ages ranged from 18.7 to 43.3 years, and the interval since injury ranged from four months to 14.1 years. The level of injury varied from C5 to T12. Bi-directional emission was found in 12 patients, antegrade in nine, retrograde in one and failure in three. Electroejaculatory stimulation parameters were 434 +/- 54 mA for mean maximum current, 21.7 +/- 2.7 volts for mean maximum voltage and 35.9 +/- 3.1 degrees C for mean maximum probe temperature. The antegrade semen obtained showed wide variations in sperm quality and quantity between subjects. The total sperm count was 478 +/- 809 x 10(6) in the antegrade portion, and the sperm motility was below 5% in most cases. The retrograde portion was usually worse. There was no correlation between sperm quality and quantity with patient age, injury level or injury period. Bladder management had no effect on the results of electrical stimulation. Epididymitis had a negative impact on the success of retrieval. Low-level injury victims needed analgesia or anesthesia to complete the stimulation. The major side effects were minimal autonomic dysreflexia and mild rectal mucosal change. Repeated stimulation may improve sperm counts, but semen quality deteriorates if the procedure is performed once a week. As a whole, electroejaculation is a safe, effective and simple procedure to retrieve sperm in anejaculatory persons, especially SCI patients.

Adolescent↗

Cumulative experience of percutaneous epididymal sperm aspiration (PESA) with intracytoplasmic sperm injection.

OBJECTIVE: Our objective was to evaluate the recovery rate of spermatozoa from the epididymis using a percutaneous aspiration technique and to assess the fertilisation rate after intracytoplasmic sperm injection. MATERIALS AND METHODS: Fifty-four patients with azoospermia had a total of 59 cycles at IVF with intracytoplasmic sperm injection (ICSI). The cause of the azoospermia was failed vasectomy reversal in 23 cases, congenital absence of the vas in 22 cases, partial testicular failure in 5 cases, and retrograde ejaculation in 2 cases, while the remaining 2 patients had erectile disorders. RESULTS: A total of 741 oocytes was collected and 521 metaphase II oocytes were subsequently microinjected. Normal fertilisation occurred in 274 oocytes (52.6%), and of these, 234 cleaved (85.4%). In 54 cycles, embryo transfer of more than one embryo occurred (91.5%) and a total of 155 embryos was replaced. The pregnancy rate was 30.5% per cycle and 33.3% per embryo transfer. The implantation rate was 14.2%; failure of fertilisation occurred in two cycles, while in three other cycles the embryos did not cleave. CONCLUSIONS: Percutaneous epididymal sperm aspiration can be used successfully to retrieve sperm in men with azoospermia due to obstructive, or nonobstructive, disorders. The technique is simple, cost-effective, and associated with fewer complications than an open microsurgical operation.

Adult↗

Clinical, andrological and genetic characteristics of patients with congenital bilateral absence of vas deferens (CBAVD).

Congenital bilateral absence of the vas deferens (CBAVD) is a form of infertility with an autosomal recessive genetic background in otherwise healthy males. In this study, we examined the clinical and cystic fibrosis transmembrane-conductance regulator (CFTR) gene mutations in sixty patients with bilateral absence of vas deferens that applied to andrology clinic due to male factor infertility. Urogenital anomalies of vas deferens, seminal vesicle and epididymis were detected in our patient group. CFTR gene mutations, which are known to be frequent among cystic fibrosis patients, could not be detected in our patient group with that high frequency. Delta F508 mutations were detected in only 6% of patients. IVS8 polyT alleles were positive in 68% of patients. No 1677delTA mutations and M470V variants were detected in our patient group. However, sperm retrieval is almost always possible from CBAVD patients; secondary pathologies may also result defective spermatogenesis.

Abnormalities, Multiple↗