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.

Effects of infections with five sexually transmitted pathogens on sperm quality / 대한생식의학회지

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.

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.

Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature

PURPOSE: To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. MATERIALS AND METHODS: SRY-negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction. RESULTS: Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. The SRY gene was confirmed to be absent in three of these 19 cases (15.8%). CONCLUSION: We report three rare cases of SRY-negative 46,XX testicular disorders of sex development. Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY.

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

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.

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.

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.

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/m2, 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.

Causes and classification of male infertility in Korea / 대한생식의학회지

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.

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 of Obstructive Azoospermia and Outcome of Microsurgical Reconstruction / 대한남성과학회지

PURPOSE: To define the causes of obstructive azoospermia (OA) and evaluate the possibility and efficacy of microsurgical correction. MATERIALS AND METHODS: Sixty-seven patients diagnosed as OA with normal spermatogenesis preoperatively and initially planned to microsurgical vasoepididymostomy from December 2003 and November 2009 were retrospectively analyzed. Causes of OA were analyzed and patency rate and pregnancy outcomes of their female partners were measured. RESULTS: Thirty-one patients (46.3%) could not correct their OA because of obstruction of the distal vas deferens, epididymal atrophy and/or hypotrophy and vasal injury due to previous surgery. Among the 36 patients undergone microsurgical vasoepididymostomy (mean age of patients and their female partners were 32.9 and 31.3 years, respectively), 32 patients (88.9%) were corrected bilaterally and 4 patients (11.1%) unilaterally. The overall patency rate was 17 patients (47.2%); being 15 and 2 patients for bilateral and unilateral procedure, respectively. Among the 17 patients regained the patency after surgery, except 3 cases without followed up, 6 cases achieved natural pregnancy and also 6 cases achieved the pregnancy using the assisted reproduction. CONCLUSIONS: According to the affected point of reproductive tract, not all men with obstructive azoospermia were candidates for microsurgical reconstruction. However, reasonable outcomes were achieved in the microsurgical reconstruction cases and it should be primary therapeutic method in obstructive azoospermia. For those in whom reconstruction is not a viable option, surgical methods for sperm retrieval are available to have their own biological children.

Efficacy of the Aniline Blue-eosin Staining Method for Testicular Sperm Chromatin Condensation Assay in Azoospermia / 대한남성과학회지

PURPOSE: This study was performed to evaluate chromatin condensation of morphologically mature sperm using a modified aniline blue-eosin (AB-E) staining method in azoospermia. MATERIALS AND METHODS: Chromatin condensation was analyzed using an AB-E staining method in 61 cases (50 patients) of TESE or testicular biopsy with the patient's own sperm. Obstructive azoospermia (OA) was present in 48 cases in 39 patients and non-obstructive azoospermia (NOA) was present in 13 cases in 11 patients, respectively. Immature sperm heads were stained dark blue, whereas mature sperm were stained red-pink by the eosin. The percentage of sperm chromatin condensation was calculated from the ratio of the number of red-pink sperm to the total number of sperm analyzed. RESULTS: The percentage of chromatin maturity was 37.7% vs. 30.3% in OA and NOA, respectively, of the total sperm cell count. The maturity of fresh testicular sperm was 38.3% and 36.3% in OA and NOA, respectively. Also, the maturity of thawed testicular sperm was 34.5% and 10.3% (p<0.05) in OA and NOA, respectively. The maturity of fresh and thawed testicular sperm was 36.3% and 10.3% (p<0.05), respectively, in NOA. These results suggest that chromatin condensation is less stable in sperm of NOA and freezing and thawing procedures may impair sperm chromatin condensation. CONCLUSIONS: In our results, the aniline blue-eosin staining method improved the visualization of excessive histones in sperm and the diagnosis of sperm immaturity in morphologically normal testicular sperm. We found that AB-E staining method can be an effective method for analyzing testicular sperm chromatin condensation in azoospermia.

Complications Related to Scrotal Surgery for Male Infertility / 대한남성과학회지

PURPOSE: We reviewed our experience of various scrotal surgeries for male infertility to determine the postoperative complication rates, and how our experience might differ from other series. MATERIALS AND METHODS: The medical records of 356 male patients, performed scrotal surgery for infertility from 2005 to 2006 were reviewed retrospectively. All features of postoperative complications were analyzed according to the operative procedures, use of microscope, spermatic cord incision, and type of anesthesia. RESULTS: All 356 patients of scrotal surgeries were consisted of testicular biopsy (27.2%), microsurgical multiple testicular sperm extraction (m-TESE) (26.4%), vasectomy (17.1%), vasovasostomy (12.6%), scrotal exploration (6.5%), vasoepididymostomy (5.3%) and TESE (4.8%). Complications occurred in 11 (3.1%) procedures and included petechia (27.3%), scrotal edema (27.3%), wound disruption (18.2%), hematoma (18.2%) and hemospermia (9.1%). Most complications were improved by conservative treatments such as compressive scrotal dressing with elevation and resuture was done in 18.2 % (2/11) of patients with wound disruption. In patients of spermatic cord incision, complication rates was higher than in those who did not (8.0% vs. 1.5%, respectively) (p=0.006). There were no significant differences in complication rates regarding type of anesthesia or use of microscope. CONCLUSIONS: To prevent probable complications following scrotal surgery for male infertility, intraoperative meticulous control of bleeding, compressive scrotal dressing or elevation should be considered. Especially, in surgery combined with spermatic cord incision, physicians should pay more attention to minimize postoperative complications.

Pericentric Inversion of the X Chromosome in a Male with Azoospermia and in the Family of a Pregnant Female Carrier

We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year- old man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) had concentrations of LH, prolactin, estradiol, and testosterone that were within normal ranges; however, FSH levels were elevated. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There were no microdeletions in the 6 loci of chromosome Y. For the second case, the cytogenetic study of the pregnant woman referring for advanced maternal age and a family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among other family members, the karyotypes of an older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,inv(X), respectively. The proband's father was 46,Y,inv(X)(p22.11q27.2). All carriers in the family discussed above were fertile and phenotypically normal. In addition, the ratio of inactivation of inv(X) by RBG-banding was discordant between the two sisters, with the older sister having only 4.1% of cells carrying inactivated inv(X) while the proband had a 69.5% incidence of late replicating inv(X). Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also, the family of the second case showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.

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 4cm (4.5%) (p or = T3 was significantly less among tumors 4cm (26.8%) (p or = 3 was also significantly less among tumors 4cm (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.

Role of Epidermal Growth Factor Receptor and the HER-2 Gene in Hormone Refractory Prostate Cancer / 대한비뇨기과학회지

PURPOSE: Amplification and mutation of the epidermal growth factor receptor(EGFR) and HER-2 genes were analyzed in the tissues of hormone refractory prostate cancer(HRPC) patients. MATERIALS AND METHODS: Gene amplifications of the EGFR and HER-2 gene were analyzed by fluorescence in situ hybridization(FISH) with direct sequencing. Studies were performed on 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 the EGFR gene and exons 19 and 20 of the HER-2 gene. The amplifications and mutations were compared with the clinicopathologic features. RESULTS: Gene amplification of the EGFR gene 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 a hormone refractory status had a novel deletion mutation in EGFR exon 19. EGFR mutations were associated with the acinar type of prostate cancer, but they were not associated with the ductal type. No significant correlation was found between mutation change and the 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. CONCLUSONS: EGFR gene mutation and amplification occurred frequently in these advanced prostate cancer cases, but EGFR mutations do not appear to play a significant role in the hormone refractory pathway. However, EGFR gene mutation is closely associated with the time to convert to HRPC.

Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome / 亚洲男科学杂志(英文版)

<p><b>AIM</b>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).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>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.</p>

Comparative Study of the Tension-Free Vaginal Tape (TVT) Procedure and the Suprapubic Arc Sling (SPARC) Procedure for Treating Female Stress Urinary Incontinence: a 1-Year Follow-Up / 대한비뇨기과학회지

PURPOSE: We wanted to compare the efficacy and outcomes of two retropubic mid-urethral sling procedures, tension-free vaginal tape (TVT) and suprapubic arc sling (SPARC), in the women suffering with stress urinary incontinence (SUI). MATERIALS AND METHODS: A total of 124 women with SUI were assigned to either the TVT group (n=62) or the SPARC group (n=62) within a same period. Only the patients with a follow-up of at least 12 months were included and those patients who underwent conjoined pelvic reconstructive surgeries for coexisting pelvic organ prolapse were excluded from this study. Finally, 90 patients (TVT: 42, SPARC: 48) remained in the study. The objective cure rate was evaluated by clinical and urodynamic examinations; the satisfaction rate was determined by using a questionnaire via the telephone or a self-addressed, stamped envelope. The mean follow-up period was 16.3 months in the TVT group and 16.3 months in the SPARC group. RESULTS: Two groups were similar in their preoperative characteristics and the perioperative parameters. There was no significant difference between the 2 groups in terms of the cure rate: cure (91.7% vs. 100%, p=0.056), improvement (6.2% vs. 0%, p=0.099), and failure (2.1% vs. 0%, p=0.347) for SPARC and TVT, respectively. In addition, the patient satisfaction rate was not different significantly between 2 groups. The main complication was urinary retention, and this was diagnosed in 6 patients; 3 (7.1%) in the TVT group and 3 (6.3%) in the SPARC group. De novo urge symptoms were observed in 3 patients (1 in the TVT group and 2 in the SPARC group). CONCLUSIONS: SPARC sling and TVT appears to be equally effective and safe for the surgical treatment of female SUI at the 1-year follow-up, although further studies are needed to establish the long-term efficacy and safety of these procedures.