Abnormal Human Sperm Parameters Contribute to Sperm DNA Fragmentation in Men with Varicocele.

PURPOSE: This study was performed to evaluate and compare threshold sperm parameters and sperm DNA fragmentation index (DFI), and further analyzed whether sperm DFI could be predicted from sperm parameters in men with varicocele. MATERIALS AND METHODS: A total of 157 semen samples underwent both semen analysis and sperm DNA fragmentation (SDF) testing in men with varicocele. Sperm parameters were assessed using the World Health Organization guidelines. SDF testing was performed using the Halosperm kit. Sperm parameters and sperm DFI results were compared. RESULTS: The overall sperm parameter results and sperm DFI showed normal values; however, the morphology value was at the lower limit of normal. High sperm DFI was associated with significantly lower motility and viability (p<0.001, respectively). Sperm motility and morphology were significantly higher in the higher sperm count group compared to the lower sperm count group (p<0.05), while sperm DFI was higher in the lower sperm count group (p<0.05). Sperm count and viability and sperm DFI were significantly associated with the quality of sperm motility (p<0.001). Sperm motility and sperm DFI were significantly different (p<0.001) between normal and abnormal sperm viability groups. Between normal and abnormal sperm morphology groups, sperm count, motility, and sperm DFI showed significant differences (p<0.001). CONCLUSIONS: In this study, a correlation between SDF and sperm parameters was confirmed in men with varicocele. SDF may be contributing factors to sperm motility, viability, and morphology. Abnormal sperm count, motility, and viability showed high sperm DFI. Therefore, lower sperm parameters were indicative of increasing SDF in men with varicocele.

Hypogonadism Makes Dyslipidemia in Klinefelter's Syndrome.

Klinefelter's syndrome (KS) is a genetic syndrome that presents with hypogonadism and is associated with metabolic syndrome. Patients demonstrating hypogonadism show a greater prevalence of metabolic syndrome due to changes in body composition. We aimed to determine the association between KS and dyslipidemia. The KS group comprised 55 patients who visited the infertility clinic for an infertility evaluation and were confirmed as having a diagnosis of KS. The control group comprised 120 patients who visited the clinic for health screening. Patient characteristics were compared between the two groups with respect to height, weight, body mass index (BMI), testosterone, total cholesterol, high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, and triglyceride (TG) levels. Height and weight were significantly greater in patients belonging to the KS group, but no statistically significant difference was found with respect to the BMI. Testosterone levels in patients belonging to the KS group were significantly lower compared to the control group (2.4 ± 2.6 vs. 5.2 ± 1.8 ng/mL, P < 0.001). Compared to the control group, TG levels in patients belonging to the KS group were increased (134.9 ± 127.8 vs. 187.9 ± 192.1 mg/dL, P = 0.004) and HDL cholesterol was significantly decreased (51.2 ± 22.0 vs. 44.0 ± 9.5 mg/dL, P = 0.009). LDL cholesterol and total cholesterol were not significantly different between the two groups (P = 0.076 and P = 0.256, respectively). Significant differences were noted between patients belonging to the KS group and normal control group with respect to elevated TG and decreased HDL cholesterol levels.

Effects of infections with five sexually transmitted pathogens on sperm quality.

OBJECTIVE: This study investigated the prevalence of infections with human papillomavirus, Chlamydia trachomatis, Ureaplasma urealyticum, Mycoplasma hominis, and Mycoplasma genitalium in the semen of Korean infertile couples and their associations with sperm quality. METHODS: Semen specimens were collected from 400 men who underwent a fertility evaluation. Infection with above five pathogens was assessed in each specimen. Sperm quality was compared in the pathogen-infected group and the non-infected group. RESULTS: The infection rates of human papillomavirus, C. trachomatis, U. urealyticum, M. hominis, and M. genitalium in the study subjects were 1.57%, 0.79%, 16.80%, 4.46%, and 1.31%, respectively. The rate of morphological normality in the U. urealyticum-infected group was significantly lower than in those not infected with U. urealyticum. In a subgroup analysis of normozoospermic samples, the semen volume and the total sperm count in the pathogen-infected group were significantly lower than in the non-infected group. CONCLUSION: Our results suggest that infection with U. urealyticum alone and any of the five sexually transmitted infections are likely to affect sperm morphology and semen volume, respectively.

Serum and seminal plasma insulin-like growth factor-1 in male infertility.

OBJECTIVE: Growth hormone and its mediator, insulin-like growth factor-1 (IGF-1), have been suggested to exert gonadotropic actions in both humans and animals. The present study was conducted to assess the relationship between serum IGF-1 concentration, seminal plasma concentration, and sperm parameter abnormalities. METHODS: A total of 79 men were enrolled in this study from December 2011 to July 2012 and were prospectively analyzed. Patient parameters analyzed included age, body mass index, smoking status, urological history, and fertility history. Patients were divided into four groups based on their semen parameters: normal (A, n=31), abnormal sperm motility (B, n=12), abnormal sperm morphology (C, n=20), and two or more abnormal parameters (D, n=16). Patient seminal plasma and serum IGF-1 concentrations were determined. RESULTS: Patient baseline characteristics were not significantly different between any of the groups. The serum IGF-1 levels in groups B, C, and D were significantly lower than the levels in group A; however, the seminal plasma IGF-1 levels were not significantly different between any of the groups. CONCLUSION: Men with abnormal sperm parameters had significantly lower levels of serum IGF-1 compared with men with normal sperm parameters. Seminal plasma IGF-1 levels, however, did not differ significantly between the groups investigated here. Further investigations will be required to determine the exact mechanisms by which growth hormone and IGF-1 affect sperm quality.

Do cigarette smoking and obesity affect semen abnormality in idiopathic infertile males?

PURPOSE: This study was conducted to find the relative risk of semen abnormality with respect to smoking history and obesity. MATERIALS AND METHODS: Subfertile or infertile men were enrolled in this study from July 2010 to June 2011. All participants provided their cigarette use information, self-reported weight, height, semen analysis, physical examination, and sexually transmitted disease status. None of the enrolled patients had any specific pathological reason for infertility. Semen abnormality was defined as a condition in which one or more parameters did not satisfy the World Health Organization's criteria. RESULTS: A total of 1,073 male patients were considered for this study. After the application of the inclusion criteria, 193 patients were finally analyzed. These patients were divided into two groups according to semen abnormality: the normal semen group (n=72) and the abnormal semen group (n=121). Baseline characteristics, except age and smoking history, were not significantly different between the two groups. Smoking history and age were risk factors for the semen abnormality of idiopathic infertile male patients. CONCLUSIONS: Smoking and old age were risk factors for semen abnormality. However, obesity did not affect the semen abnormality. Smoking affected semen quality and is therefore expected to play a negative role in conception.

Clinical implications for graft function of a new equation model for the ratio of living donor kidney volume to recipient body surface area.

PURPOSE: We propose an equation that predicts graft function after kidney transplantation by using donated kidney volume and recipient body surface area (BSA). MATERIALS AND METHODS: Included were 261 cases of living kidney transplantation between 2007 and 2009. Preoperative computed tomography scans were performed and the donated kidney volume was measured by use of a three-dimensional reconstruction program (Ripidia). The estimated glomerular filtration rate (eGFR) was calculated by using the modification of diet in renal disease formula. Donated kidney volume, preoperative renal function, and demographic factors of both donors and recipients were evaluated as predictors. RESULTS: The mean ages of the donors and recipients were 40.8 and 41.6 years, respectively. The mean donated kidney volume and donated kidney volume/recipient BSA ratio were 153.4 mL and 96.9 mL/m(2), respectively. Mean preoperative and postoperative 12-month eGFR of recipients were 7.1 and 59.7 mL/min, respectively, and the mean preoperative eGFR of donors was 92.2 mL/min. Donated kidney volume/recipient BSA ratio, donor age, and recipient gender were the significant predictors of eGFR level (p<0.001) and eGFR<45 mL/min at postoperative 12 months (p=0.005, p<0.001, and p=0.006). From the multiple linear regression equation and predicted probability from logistic regression, we could calculate the equation for the ratio of living donor kidney volume to recipient BSA on graft function. CONCLUSIONS: Graft kidney volume/recipient BSA ratio, donor age, and recipient gender were predictors of graft function 12 months after kidney transplantation. Although we are concerned only with the preoperative, this equation model could help physicians to counsel patients concerning their postoperative prognosis and to avoid insufficient volume donations.

Success rate of microsurgical multiple testicular sperm extraction and sperm presence in the ejaculate in korean men with y chromosome microdeletions.

PURPOSE: We assessed the frequency of azoospermia factor a (AZFa), AZFb, and AZFc deletions and examined correlations between the deletion sites and the success rates of sperm presence within the ejaculate and surgical sperm retrieval in Korean men. MATERIALS AND METHODS: A total of 1,919 azoospermic and severely oligozoospermic men were assessed for Y chromosome microdeletions. Among them, 168 men with AZF deletions were identified and their medical records were reviewed. RESULTS: Of the total 168 men with AZF deletions, there were 13 with AZFa, 10 with AZFb, 95 with AZFc, 37 with AZFbc, and 13 with AZFabc deletions. Of the 95 men with isolated AZFc deletion, 51 had the presence of sperm in the ejaculate. Of the infertile men with any other deletion, however, only two patients (one man with AZFb deletion and another with AZFbc deletion) showed the presence of sperm in the ejaculate. The success rates for surgical sperm retrieval were 7.1% (1/14) in men with AZFbc deletion and 54.8% (17/31) in the isolated AZFc deletion group. No sperm was obtained from the patients with AZFa or AZFb deletions who underwent microsurgical sperm retrieval. In the isolated AZFc deletion group, there were significant differences between azoospermic and severely oligozoospermic patients in terms of testicular volume and serum levels of follicle-stimulating hormone and luteinizing hormone, whereas no significant differences were found when the group was divided by surgical sperm retrieval outcomes. CONCLUSIONS: Deletions of the AZFa and AZFb regions are associated with severe spermatogenetic impairment. However, more than half of men with an AZFc deletion had sperm within the ejaculate or testis for in vitro fertilization with intracytoplasmic sperm injection.

Klinefelter syndrome diagnosed by prenatal screening tests in high-risk groups.

PURPOSE: Klinefelter syndrome is a chromosomal disorder present in 1 out of 400 to 1,000 male newborns in Western populations. Two-thirds of affected newborns show a karyotype of 47,XXY. Few studies have examined the incidence of Klinefelter syndrome in Korea. The aim of this study was to investigate the incidence of Klinefelter syndrome by use of prenatal screening tests. MATERIALS AND METHODS: From January 2001 to December 2010, 18,049 pregnant women who had undergone a chromosomal study for fetal anomalies were included. For fetuses that were diagnosed as having Klinefelter syndrome, the patients' medical records were retrospectively reviewed. Both parents' ages, the reason for the chromosomal studies, and karyotypes were investigated. RESULTS: We found that 22 of 18,049 (0.12%) fetuses were diagnosed with Klinefelter syndrome. The incidence of this disorder in male fetuses was 22 of 9,387 (0.23%). Also, 19 of the newborns (86.4%) showed a karyotype of 47,XXY; the other newborns showed karyotypes of 48,XXY,+21; 48,XXY,+12[12]/46,XY[54]; and 47,XXY[6]/45,X[1]/46,XY[95]. The mean age of the mothers was 36.1 years, and 2 women had a past history of a Down syndrome pregnancy. Nine mothers had a normal spontaneous delivery, 9 mothers underwent artificial abortion, and 2 fetuses were spontaneously aborted. CONCLUSIONS: The incidence of Klinefelter syndrome as reported in this study is higher than in previous studies. Further studies with a broader population should be considered to confirm these results.

Concordance of Ureaplasma urealyticum and Mycoplasma hominis in infertile couples: impact on semen parameters.

OBJECTIVE: To assess the relationship between mycoplasma infection and human infertility, we determined the concordance of Ureaplasma urealyticum (UU) and Mycoplasma hominis (MH) detection in infertile and fertile couples, and assessed semen parameters in both groups. METHODS: Fifty infertile couples without a female factor attending a fertility clinic and 48 fertile couples were randomly screened for UU and MH. The concordance between partners was compared between the fertile and infertile groups. Semen and endocervical specimens were evaluated using the commercially available Mycofast Evolution2 test. RESULTS: UU was detected in 24 semen specimens (48%) from the infertile men, in 12 specimens from fertile men (25%), in 20 endocervical specimens from infertile women (40%), and 11 from fertile women (22.9%). UU was detected higher in infertile men than in fertile men (P = .022). The concordance of UU was higher in infertile couples (32%) than in fertile couples (12.5%, P = .022). The concordance of MH between male and female partners in the 2 groups did not differ significantly. The mean values of total motility, progressive motility, normal morphology, vitality, and total motile sperm count were significantly lower in sperm from infertile men than from fertile men. Progressive motility and vitality were significantly lower in UU-positive men than in men without UU, and low total motility and total motile sperm count were significantly related to the presence of MH. CONCLUSION: Clinicians should consider the roles of UU and MH in infertility and routinely screen infertile couples for the presence of these mycoplasma species.

Urologic complications following obstetric and gynecologic surgery.

PURPOSE: Urologic injuries occur frequently during surgery in the pelvic cavity. Inadequate diagnosis and treatment may lead to severe complications and side effects. This investigation examined the clinical features of urologic complications following obstetric and gynecologic surgery. MATERIALS AND METHODS: We accumulated 47,318 obstetric and gynecologic surgery cases from 2007 to 2011. Ninety-seven patients with urological complications were enrolled. This study assessed the causative disease and surgical approach, type, and treatment method of the urologic injury. RESULTS: Of these 97 patients, 69 had bladder injury, 23 had ureteral injury, 2 had vesicovaginal fistula, 2 had ureterovaginal fistula, and 1 had renal injury. With respect to injury rate by specific surgery, laparoscopic-assisted radical vaginal hysterectomy was the highest with 3 of 98 cases, followed by radical abdominal hysterectomy with 15 of 539 cases. All 69 cases of bladder injury underwent primary suturing during surgery without complications. Of 14 cases with an early diagnosis of ureteral injury, 7 had a ureteral catheter inserted, 5 underwent ureteroureterostomy, and 2 underwent ureteroneocystostomy. Of nine cases with a delayed diagnosis of ureteral injury, ureteral catheter insertion was carried out in three cases, four cases underwent ureteroureterostomy, and two cases underwent ureteroneocystostomy. CONCLUSIONS: Bladder injury was the most common urological injury during obstetric and gynecologic surgery, followed by ureteral injury. The variety of injured states, difficulty of diagnosis, and time to complete cure were much greater among patients with ureteral injuries. Early diagnosis and urologic intervention is important for better outcomes.

Causes and classification of male infertility in Korea.

OBJECTIVE: The aim of this study is to investigate the various causes of male infertility using multiple approaches. METHODS: Nine-hundred-twenty infertile male patients were analyzed at their first visit with one physician between January 1 and December 31, 2009. All patients were subjected to physical examination, semen analysis and azoospermic patients underwent hormonal testing, chromosomal tests, and testicular biopsy. Semen analysis was based on the definition of the World Health Organization. RESULTS: Among the 920 patients, 555 patients (60.3%) had semen results within the normal range, 269 patients (29.2%) within the abnormal range, and 96 (10.5%) were diagnosed with azoospermia. Varicoceles were diagnosed in 84 of the 555 normal-range patients (15.1%) and in 113 of the 269 abnormal-range patients (42.0%). Of the 96 patients with azoospermia, 24 patients (25%) were diagnosed with obstructive azoospermia, 68 patients (71%) with non-obstructive azoospermia, and 4 patients (4%) with retrograde ejaculation. CONCLUSION: Various causes of male infertility have been reported and diverse treatment methods can be adopted for each cause. In this regard, research must be conducted on a larger number of patients to accurately assess the various causes of infertility in Korean patients and to investigate various infertility treatment methods.

A multi-institutional study on histopathological characteristics of surgically treated renal tumors: the importance of tumor size.

PURPOSE: The incidence of accidentally detected small renal tumors is increasing throughout the world. In this multi-institutional study performed in Korea, histopathological characteristics of contemporarily surgically removed renal tumors were reviewed with emphasis on tumor size. MATERIALS AND METHODS: Between January 1995 and May 2005, 1,702 patients with a mean age of 55 years underwent surgical treatment at 14 training hospitals in Korea for radiologically suspected malignant renal tumors. Clinicopathological factors and patient survival were analyzed. RESULTS: Of the 1,702 tumors, 91.7% were malignant and 8.3% were benign. The percentage of benign tumors was significantly greater among those < or = 4 cm (13.2%) than those > 4 cm (4.5%) (p < 0.001). Among renal cell carcinoma patients, the percentage of tumors classed as stage > or = T3 was significantly less among tumors < or = 4 cm (5.2%) than those > 4 cm (26.8%) (p < 0.001). The percentage of tumors classed as Fuhrman's nuclear grades > or = 3 was also significantly less among tumors < or = 4 cm (27.3%) than tumors > 4 cm (50.9%) (p < 0.001). The 5-year cancer-specific survival rate was 82.7%, and T stage (p < 0.001), N stage (p < 0.001), M stage (p = 0.025), and Fuhrman's nuclear (p < 0.001) grade were the only independent predictors of cancer-specific survival. CONCLUSION: In renal tumors, small tumor size is prognostic for favorable postsurgical histopathologies such as benign tumors, low T stages, and low Fuhrman's nuclear grades. Our observations are expected to facilitate urologists to adopt function-preserving approach in the planning of surgery for small renal tumors with favorable predicted outcomes.

Gene amplification and mutation analysis of epidermal growth factor receptor in hormone refractory prostate cancer.

BACKGROUND: Amplification and mutation of the epidermal growth factor receptor (EGFR) and Her-2 genes were analyzed in both hormone sensitive and hormone refractory prostate cancer (HRPC). METHODS: Gene amplifications of EGFR and Her-2 were analyzed by fluorescence in situ hybridization (FISH) with direct sequencing. Studies were performed on a total of 10 patients; tissues were sampled at the time of initial diagnosis and after the conversion to HRPC (a total of 20 tissue samples). Direct sequencing was performed on exons 18-24 of EGFR and exons 19 and 20 of Her-2. Amplification and mutation were compared with clinicopathologic features. RESULTS: Gene amplification of EGFR was observed in 6 (30%) out of 20 samples. A total of six EGFR mutations in exons 18 and 19 were detected in three pairs of tissues (three patients). One patient, with hormone refractory status, had a novel deletion mutation in EGFR exon 19. EGFR mutations were associated with the acinar type of prostate cancer but were not associated with the ductal type. No significant correlation was found between mutation change and hormone sensitive or refractory status. However, the time to convert to HRPC was significantly shorter in the patients with a mutation in the EGFR gene (P = 0.017). There were no Her-2 gene amplifications or mutations found in any of the samples. CONCLUSIONS: EGFR gene mutation and amplification occurred frequently in advanced prostate cancer cases. EGFR mutations do not appear to play a significant role in the hormone refractory pathway but are associated with prognosis.

Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome.

AIM: To evaluate the occurrence of classical azoospermia factor (AZF) deletions of the Y chromosome as a routine examination in azoospermic subjects with Klinefelter syndrome (KS). METHODS: Blood samples were collected from 95 azoospermic subjects with KS (91 subjects had a 47,XXY karyotype and four subjects had a mosaic 47,XXY/46,XY karyotype) and a control group of 93 fertile men. The values of testosterone, follicle stimulating hormone (FSH) and luteinizing hormone (LH) were measured. To determine the presence of Y chromosome microdeletions, polymerase chain reaction (PCR) of five sequence-tagged site primers (sY84, sY129, sY134, sY254, sY255) spanning the AZF region, was performed on isolated genomic DNA. RESULTS: Y chromosome microdeletions were not found in any of the 95 azoospermic subjects with KS. In addition, using similar conditions of PCR, no microdeletions were observed in the 93 fertile men evaluated. The level of FSH in KS subjects was higher than that in fertile men (38.2 +/- 10.3 mIU/mL vs. 5.4 +/- 2.9 mIU/mL, P < 0.001) and the testosterone level was lower than that in the control group (1.7 +/- 0.3 ng/mL vs. 4.3 +/- 1.3 ng/mL, P < 0.001). CONCLUSION: Our data and review of the published literature suggest that classical AZF deletions might not play a role in predisposing genetic background for the phenotype of azoospermic KS subjects with a 47,XXY karyotype. In addition, routine screening for the classical AZF deletions might not be required for these subjects. Further studies including partial AZFc deletions (e.g. gr/gr or b2/b3) are necessary to establish other mechanism underlying severe spermatogenesis impairment in KS.

Urodynamic studies in women with stress urinary incontinence: Significant bacteriuria and risk factors.

AIM: A prospective study was performed to determine the incidence of significant bacteriuria and to identify the risk factors for bacteriuria after urodynamic studies (UDSs) in women with urodynamic stress urinary incontinence (SUI). METHODS: A total of 225 women with urodynamic SUI were evaluated. All women were negative on double-screened urine cultures, in clean-catch midstream urine (MSU) specimens, before UDS. Another urine specimen was obtained for urinalysis and culture at 3-7 days after UDS. Urinary culture with 10(5) CFU/ml or more was regarded as significant bacteriuria. To identify the risk factors for significant bacteriuria, the clinical characteristics of all patients including age, BMI, parity, medical and operation history, degree of pelvic organ prolapse, results of urinalysis, and UDS were evaluated. RESULTS: The prevalence of significant bacteriuria was 6.2%. The most common identified microorganism was Escherichia coli (57.1%). Univariate analysis demonstrated that a history of recurrent urinary tract infection (UTI; P = 0.002) and urological surgery or procedure (P = 0.02) were significant predictors of significant bacteriuria. On multiple logistic regression analysis the past history of recurrent UTI was the only significant independent risk factor (OR = 28.5, 95% CI = 4.309-188.488, P = 0.009). CONCLUSIONS: This study suggests that for most women with SUI it may be unnecessary to use preventive prophylactic antibiotics in UDS. However, our results suggest that in patients with a previous history of recurrent UTI or urologic surgery the risk for significant bacteriuria is increased and use of prophylactic antibiotics should be considered.

What is the indication of varicocelectomy in men with nonobstructive azoospermia?

OBJECTIVES: To investigate the effect of microsurgical varicocelectomy in nonobstructive azoospermic patients. The surgical outcomes were correlated with the histopathologic patterns of testicular specimens. METHODS: A total of 19 nonobstructive azoospermic men who underwent testicular biopsy and varicocelectomy were included in the study. In 15 patients, unilateral varicocelectomy was performed, and in 4, bilateral varicocelectomy was performed. An inguinal approach with a microsurgical technique was used. Postoperative semen analyses were performed in each patient 3 months after varicocelectomy. RESULTS: Testicular histologic examination revealed hypospermatogenesis in 3 patients, maturation arrest in 6, and germ cell aplasia in 10. After a mean follow-up of 7.4 months, motile sperm in the ejaculate was identified in 7 (36.4%) of the nonobstructive azoospermic patients. Of these 7 patients, 2 had hypospermatogenesis, 4 had maturation arrest, and 1 had Sertoli cell-only syndrome. All 7 patients had improvement in their sperm concentration and motility (0.36 x 10(6)/mL and 47.1%, respectively). However, 2 of these 7 patients with motile sperm after varicocelectomy had recurrence of the azoospermic state at their second postoperative semen analysis. Pregnancy was achieved by natural intercourse for 1 of the men (5.3%) with hypospermatogenesis. CONCLUSIONS: Microsurgical varicocelectomy may offer patients with nonobstructive azoospermia an opportunity to have sperm in their ejaculate and even the possibility of natural conception. Microsurgical varicocelectomy can be considered a viable option in selective patients with nonobstructive azoospermia and varicocele, instead of the less cost effective and more bothersome assisted reproductive techniques.

Expression of mucin genes in the human testis and its relationship to spermatogenesis.

In this study we investigate the expression pattern of mucin genes in the human testis and evaluate the relationship between the expression of mucin genes and impaired spermatogenesis in the human testis. Thirty human testis tissues were collected from patients undergoing diagnostic testicular biopsy to investigate the cause of infertility. One part of the tissue underwent histological observation, and the other part of the tissue was subjected to semiquantitative RT-PCR of mucin genes, that is, mucin1, 2, 3, 4, and 9. The relative amount of mucin mRNAs was calculated by densitometry using glyceraldehydes-3-phosphate dehydrogenase (GAPDH) as an internal control. The samples were histologically diagnosed as either obstructive azoospermia with normal spermatogenesis (n = 13) or non-obstructive azoospermia with impaired spermatogenesis (n = 17). In the human testis with normal spermatogenesis, mRNA expression of mucin1, 9, 13 and GAPDH were found, but RT-PCR products of mucin 2, 3 and 4 were not detected. In the testis with impaired spermatogenesis, however, RT-PCR product of mucin1 was not found. There was no difference in the other mucin mRNA expression patterns between the testis with either normal or impaired spermatogenesis. To our knowledge, this study is the first that has detected the mRNA of mucin9 and 13 in human testis. This study also shows that mucin1 expression might be closely related to spermatogenesis. Our findings should be substantiated by more direct evidence, such as mucin protein expression and localization.

Successful testicular sperm extraction in Korean Klinefelter syndrome.

OBJECTIVES: To evaluate the clinical features of Korean Klinefelter syndrome (KS) and the outcome of intracytoplasmic sperm injection using fresh testicular spermatozoa obtained by testicular sperm extraction from these infertile men. Most patients with KS have a nonmosaic 47,XXY karyotype, and about 3% of males with KS are mosaic (46,XY/47,XXY). Great variability is present in the clinical findings. Testicular sperm extraction in conjunction with intracytoplasmic sperm injection has been performed in men with KS in the hope of finding spermatozoa, and some men with KS have had sperm retrieved successfully and achieved pregnancy. METHODS: From January 2000 to January 2002, 42 azoospermic patients were diagnosed with KS after cytogenic evaluation. The karyotypes for all patients were determined by cytologic analysis, including the evaluation of more than 30 peripheral blood lymphocyte metaphases. The patients underwent history and physical examination. The testicular volume was measured using an orchidometer. Semen analysis was performed twice according to the methods recommended by the World Health Organization. Their hormonal profile was also assessed. RESULTS: Our study groups consisted of 36 patients with KS, 11 with mosaic and 25 with nonmosaic KS. Testicular sperm extraction was performed in all 36 patients. In 10 patients (27%), mature sperm were found in the wet preparation and were used for intracytoplasmic sperm injection. No statistically significant correlation was found between sperm extraction and age, serum follicle-stimulating hormone, serum testosterone, or testicular volume. The sperm retrieval rate of the patients with mosaic and nonmosaic KS was 54.5% and 16%, respectively. Intracytoplasmic sperm injection using fresh testicular spermatozoa resulted in a total fertilization rate of 50%. CONCLUSIONS: In our study, patients with mosaic KS had a greater rate of successful sperm retrieval than did those with nonmosaic KS. However, age, serum follicle-stimulating hormone, testosterone level, and testicular volume had no statistically significant relationship with successful sperm retrieval. Testicular sperm obtained from patients with KS induced fertilization and delivery of chromosomally normal children.