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ABSTRACT: PURPOSE: To investigate the effect of the deleted in azoospermia (DAZ) copy cluster deletion on spermatogenesis in the South Chinese population. METHODS: In this study, the prevalence and characteristics of different DAZ copy cluster deletions and their association with spermatogenic failure were analyzed. A total of 186 infertile men with different spermatogenic impairments and 190 normozoospermic fertile men were studied. Three DAZ-specific single nucleotide variant loci and seven AZFc-specific sequence-tagged sites were examined using polymerase chain reaction (PCR)-restriction fragment length polymorphism and routine PCR. RESULTS: Gr/gr deletions were observed in a total of 9 of the 190 normozoospermic fertile men, and 11 gr/gr deletions were found in 186 infertile men. In addition, 3 b2/b3 deletions were identified in the infertile, but not in the fertile men. DAZ-SNV loci analysis revealed 4 DAZ copies that had 8 gr/gr-DAZ3/DAZ4 deletions and 1 gr/gr-DAZ1/DAZ2 deletion in the fertile men (8/190 vs. 1/190, p = 0.037). Analysis of DAZ deletion copies in infertile men revealed 10 gr/gr-DAZ1/DAZ2 deletions, 1 gr/gr-DAZ3/DAZ4 deletion (10/186 vs. 1/186, p = 0.011) and 3 b2/b3-DAZ1/DAZ2 deletions (13/186 vs. 1/186, p = 0.002). CONCLUSIONS: Analysis of DAZ gene copies in AZFc microdeletions suggests that the contribution of the different deletions to male infertility varies. Removing DAZ1/DAZ2 seems to be associated with spermatogenic impairment, whereas removing DAZ3/DAZ4 seems to have little or no effect on fertility in the South Chinese population.
World Journal of Urology 03/2013; · 2.41 Impact Factor
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ABSTRACT: BACKGROUND: Extramammary Paget's disease (EMPD) is considered an intraepithelial adenocarcinoma. Paget's disease of the penis is the most common disease of EMPD in male patients. OBJECTIVE: The objective of this study was to investigate and improve our knowledge of the clinical features, diagnosis, therapeutic methods and outcome of penile Paget's disease. MATERIALS AND METHODS: Eleven patients from 2007 to 2012 with Paget's disease of the penis were analyzed retrospectively based on diagnosis, treatment and the results on follow-up. All patients received local expanding resection with intraoperative frozen sections and reconstruction of defects with split-thickness skin graft from autologous thigh tissue. RESULTS: All surgeries were successful, and the postoperative course was uneventful with complete wound healing and graft survival. No lymph node metastasis was obtained. Both the morphology of the penis and its function were well maintained. CONCLUSIONS: Chronic skin lesions of the penis should be biopsied as soon as possible, if they are suspected to be due to Paget's disease. Paget's disease of the penis should be treated with wide local excision and intraoperative frozen section examination. In addition, reconstruction of defects with split-thickness skin graft from the patient's thigh is an ideal choice for treatment.
International Urology and Nephrology 02/2013; · 1.47 Impact Factor
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ABSTRACT: To investigate the composition and morphology of the stones in the enlarged prostatic utricle (EPU).
We took out 36 EPU stones from 11 patients by transurethral fenestration between 1992 and 2011, and analyzed the stones by scanning electron microscopy, x-ray diffraction (XRD) and Fourier transform infrared spectroscopy (FTIS).
Under the scanning electron microscope, all the EPU stones were constituted of many intensive minicrystals and amorphous matrix. XRD and FTIS revealed that all were hydroxyapatite crystal.
EPU stones belong to the category of prostatic pseudocalculi, whose formation is ascribed not to the abnormal change of urine composition, but to the continuous secretion, absorption and concentration of EPU liquid and ablated epithelial cells from the EPU.
Zhonghua nan ke xue = National journal of andrology 01/2013; 19(1):54-8.
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ABSTRACT: To determine the risk, malignant degree and clinical progression of prostate cancer (PCa) associated with mouse double-minute 2 protein (MDM2) T309G variants, a meta-analysis was performed on all eligible published studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess these associations in seven studies that included 5151 cases and 1003 controls. In the overall analysis, the 309G allele was significantly associated with a decreased PCa risk (OR=0.85, 95% CI: 0.74-0.97); this was also the case for the homozygous comparison (OR=0.72, 95% CI: 0.55-0.95) and the dominant genetic model (OR=0.79, 95% CI: 0.65-0.96). The 309G allele was also found to be significantly associated with lower degrees of PCa malignancy (OR=0.85, 95% CI: 0.75-0.96) in the overall analysis, as well as in the heterozygous comparison (OR=0.79, 95% CI: 0.65-0.96), homozygous comparison (OR=0.76, 95% CI: 0.58-0.98) and dominant genetic model (OR=0.81, 95% CI: 0.68-0.96). Furthermore, grouping analysis showed that the 309G allele in Caucasians was significantly correlated with a decreased PCa risk (OR=0.77, 95% CI: 0.61-0.96); this was also the case in the homozygous comparison (OR=0.51, 95% CI: 0.31-0.86). The grouping analysis also showed that the 309G variant in Caucasians was significantly associated with a lower degree of PCa malignancy in all of the genetic models. In addition, we found that the 309G variant in Caucasians was significantly associated with a slower PCa clinical progression in all of the genetic models. In summary, our meta-analysis showed that the MDM2 309G variant was significantly associated with a decreased PCa risk, lower malignant degree and slower clinical progression in Caucasians, but there was no obvious association in the Asian population.
Asian Journal of Andrology 08/2012; 14(5):726-31. · 1.52 Impact Factor
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ABSTRACT: To investigate the safety and feasibility of glans-preserving surgery in the treatment of superficial penile cancer (SPCa).
We retrospectively analyzed the clinical data of 21 cases of SPCa treated by glans-preserving surgery in our hospital from January of 2003 to March of 2010.
The study included 21 SPCa patients aged 36 to 57 (mean 46) years, with superficial lesions involving the glans penis, coronary sulcus or shaft skin. The tumors were staged and graded TaG1 in 6 cases, TaG2 in 5, TisG1 in 2, TisG2 in 4, T1G1 in 3, and T1G2 in 1. All the patients underwent glans-preserving surgery to preserve the normal appearance and functional integrity of the glans penis, and all returned to normal sexual activity 1 month after operation, with good sexual function and sexual satisfaction. Postoperative follow-up lasted 2 to 7 (mean 5) years, and 2 cases of recurrence in situ found at 6 and 9 months, respectively, which were successfully managed by a second glans-preserving surgery.
Glans-preserving surgery is an effective method for superficial penile cancer. With proper selection of the patients, this procedure is technically safe, maximally preserves the penile appearance, and least affects the patients' sexual satisfaction.
Zhonghua nan ke xue = National journal of andrology 07/2012; 18(7):619-22.
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ABSTRACT: AIMS: To evaluate whether there is a relation between expression of vascular endothelial growth factor (VEGF) and any of the paraneoplastic syndromes (PNS) in clear cell renal cell carcinoma (ccRCC) patients. MATERIALS AND METHODS: A total of 667 patients with ccRCC and at least one PNS were included. Thorough history taking, physical examinations, and laboratory tests were used to diagnose PNS. Immunohistochemistry was performed for VEGF evaluation. RESULTS: There were 10 different PNS identified in the population. Sixty patients had a single paraneoplastic presentation. In all patients, presence of cachexia (n = 267, P < 0.0001), polycythemia (n = 40, P = 0.0014), and hypercalcemia (n = 48, P = 0.0006) was correlated to VEGF expression. Correlation was neither acquired in Stauffer's syndrome, pyrexia, elevated erythrocyte sedimentation rate (ESR), anemia, thrombocytosis, hypertension, neuromyopathy nor obtained within patients with single PNS. CONCLUSIONS: Relations between PNS and VEGF expression in renal cell carcinoma (RCC) has not been studied yet. The results we gained hereby can help us further understand the mechanistic of PNS in RCC.
Urologic Oncology 04/2012; · 3.22 Impact Factor
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ABSTRACT: To investigate any association between renal cell carcinoma (RCC) and paraneoplastic syndromes (PNS).
The retrospective analysis included 1,028 patients of Chinese Han nationality with resectable RCC and PNS. The PNS included elevated erythrocyte sedimentation rate (ESR), hypertension, cachexia, anemia, pyrexia, abnormal liver function, hypercalcemia, polycythemia, varicocele and neuromyopathy. Staging was categorized as local (T1-2N0M0) and locally advanced (T3-4NxM0).
Among patients with at least one PNS, elevated ESR (p = 0.008), cachexia (p = 0.000), varicocele (p = 0.000) and pyrexia (p = 0.021) were related to advanced stage of RCC. Among patients with only one PNS, hypertension (p = 0.012) and hypercalcemia (p = 0.000) were related to advanced stage. The remaining PNS were not associated with tumor stage.
Pyrexia, elevated ESR, cachexia and varicocele were related to advanced RCC. Hypertension and hypercalcemia occurring as single PNS, although also correlated with advanced stage, require further investigation.
Medical Principles and Practice 01/2012; 21(4):370-4. · 0.89 Impact Factor
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ABSTRACT: Our objective was to comprehensively test the composition, morphology, and structure of enlarged prostatic utricle (EPU) stones, which, as a kind of biolite in abnormal anatomical structures of the genitourinary system, have not yet been reported. Thirty-one EPU stones coming from 8 patients, who had been treated in our center from 1985 to 2009, were taken out by transurethral fenestration of EPU and were analyzed by scanning electron microscopy, x-ray diffraction (XRD) analysis, and Fourier transformation infrared spectral (FTIS) analysis. Under scanning electron microscope, all these EPU calculi were seen to be constituted of many intensive minicrystals and amorphous matrix. By XRD and FTIS analysis, we determined that the 31 EPU stones in our research were all hydroxyapatite crystal. We consider that EPU calculi should belong to the category of prostatic pseudocalculi and that the formation of EPU calculi is not caused by the abnormal change of urine composition, but should be ascribed to continuously concentrated EPU liquid by absorption of capsule walls and calculous matrix mainly coming from deciduous epithelial cells of EPUs. The role of the amorphous matrix is to link microcrystals, which promotes the growth of EPU stones.
Journal of Andrology 12/2010; 33(1):45-9. · 2.97 Impact Factor
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ABSTRACT: Vascular endothelial growth factor A (VEGF-A), a major driver of physiological and pathological angiogenesis, plays important roles in the etiology and metastasis of cancers. The +936C>T polymorphism in the 3'-untranslated region of the VEGFA gene has been implicated in cancer risk and is related to VEGF-A protein production; however, published data have been conflicting. To derive a more precise estimation of the relationship, a meta-analysis was performed of 13,293 cancer cases and 12,308 control subjects from 29 published case-control studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the association between +936C>T polymorphism and cancer risk. The meta-analysis indicated that individuals with the +936 T had increased risk of oral cancer (OR = 1.39, 95% CI = 1.03-1.88), although no association was found in the contrast of T versus C (OR = 1.00, 95% CI = 0.91-1.10) in the pooled analyses. This meta-analysis supports the idea that VEGFA + 936 T is associated with increased risk of oral cancer. To draw comprehensive and true conclusions, further prospective studies with larger numbers of participants worldwide are needed to examine associations between VEGFA + 936C>T polymorphism and cancer risk.
Cancer genetics and cytogenetics 04/2010; 198(1):7-14. · 1.54 Impact Factor
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Bin Xu,
Yuan-Yuan Mi,
Zhi-Chao Min,
Gong Cheng,
Na Tong,
Jun Tao,
Peng-Chao Li,
Mei-Lin Wang,
Jia-Lin Tang,
Zheng-Dong Zhang, Ning-Hong Song,
Wei Zhang,
Hong-Fei Wu,
Ning-Han Feng,
Li-Xin Hua
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ABSTRACT: Alterations in P53 and murine double minute 2 (MDM2) genes appear to be important in the development of many human tumors. We investigated the potential prognostic roles of p53 codon 72 and MDM2 309 and 1797 polymorphisms in prostate cancer after radical prostatectomy.
Fifty southern Chinese with prostate cancer undergoing radical prostatectomy were included in this study. All polymorphisms were detected by PCR-RFLP. Their prognosis on biochemical recurrence was assessed using Kaplan-Meier analysis and Cox regression model.
p53 codon 72 GG genotype was associated with increased biochemical recurrence compared with CG+CC genotypes and poorer PSA-free survival. It was also noted that GG genotype was an independent risk factor for biochemical recurrence after radical prostatectomy on multivariate analysis. No statistical difference was observed in MDM2 polymorphisms and prostate cancer prognosis.
Our data revealed that p53 codon 72 GG genotype carriers more frequently show biochemical recurrence than CG+CC genotypes carriers.
Urologia Internationalis 01/2010; 85(4):401-5. · 0.99 Impact Factor
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Bin Xu,
Ning-Han Feng,
Peng-Chao Li,
Jun Tao,
Deyao Wu,
Zheng-Dong Zhang,
Na Tong,
Jin-Feng Wang, Ning-Hong Song,
Wei Zhang,
Li-Xin Hua,
Hong-Fei Wu
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ABSTRACT: A G > C polymorphism (rs2910164) which is located in the sequence of miR-146a precursor, results in a change from a G:U pair to a C:U mismatch in its stem region. To explore whether rs2910164 plays any role in prostate cancer (CaP), we analyzed the association between miR-146a polymorphism and risk of CaP and the expression of miR-146a with different genotypes in CaP tissues in southern Chinese Han population.
Two hundred fifty-one CaP and 280 control subjects were included in the cancer association study, and 15 CaP tissue samples were used to test the expression of the miRNA precursors by real-time quantitative reverse transcription PCR.
We found that subjects carrying CC homozygotes had a 0.65-fold reduced risk (95% CI = 0.43-0.99) than those carrying GG/GC genotypes (P = 0.03), and the C allele displayed a lower prevalence of CaP compared with the G allele (OR = 0.73, 95% CI = 0.57-0.94, P = 0.01). Moreover, hsa-miR-146a quantification showed that homozygous carriers of the C-variant had significantly decreased miRNA levels compared to the carriers of the GG/GC genotype.
The natural genetic variation in pre-miR-146a affects the amount of mature miR-146a, contributes to the genetic predisposition to CaP.
The Prostate 11/2009; 70(5):467-72. · 3.48 Impact Factor
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ABSTRACT: To evaluate the clinical significance of prostate-specific antigen (PSA) screening in early detection of prostate cancer in Chinese men.
PSA screening was performed in 8562 asymptomatic men who had been enrolled for health checkup and all were > or = 50 years old. Prostate biopsy was recommended for those with a serum PSA level > or = 4.0 ng/ml. The pathological and clinical features of the patients with prostate cancer detected by the PSA screening were compared with that of 82 clinically diagnosed prostate cancer patients during the same period.
Of the 8562 asymptomatic men, 719 had PSA levels > or = 4.0 ng/ml and biopsy was performed in 295 of them. Fifty-eight prostate cancers were detected. The biopsy rate was 41.0% and positive detection rate was 19.7%. The overall age distribution in the screening group and the clinical groups was not significantly different (P = 0.176). However, 41.4% (24/58) of the patients in screening group were > 75 years old, and significantly more than that in the clinical group (25.6%, P = 0.0491). The proportion of the patients with PSA levels > or = 20 ng/ml in the screening group was significantly less than that in the patients of the clinical group (44.8% vs. 75.6%, P = 0.0002). Whether in the patients whose age was > 75 years old (P < 0.05) or < or = 75 years old (P = 0.0002), the patients in the screening group had significantly lower Gleason scores < 7 (60.3% vs. 34.1%, P = 0.002), more T1 or T2 tumor (87.9% vs. 26.8%, P < 0.0001) and more chance to receive radical prostatectomy (50.0% vs. 18.3%, P < 0.0001) than the patients in the clinical group did. However, the distributions of PSA levels at diagnosis and biopsy Gleason scores were not significantly different between the above mentioned two groups (P > 0.05).
Prostate-specific antigen (PSA) screening is useful for early detection of prostate cancer in Chinese men aged > or = 50 years. The patients detected by PSA screening usually show a lower PSA level, Gleason scores and early clinical stage disease, and have more chance for radical prostatectomy than the clinically diagnosed patients.
Zhonghua zhong liu za zhi [Chinese journal of oncology] 09/2009; 31(9):705-9.
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ABSTRACT: To investigate the association of the risk of prostate cancer (PCa) with the polymorphism of the CYP2E1 gene, smoking and drinking, and to explore the joint role of genes and living habits in PCa pathogenesis.
We conducted a case-control study on 109 PCa patients and 202 age-matched non-PCa male controls, and detected the polymorphisms of CYP2E1 Rsa I and Pst I sites by PCR-RFLP using DNA from peripheral blood lymphocytes.
The history of deep smoking (OR = 2.29, 95% CI: 1.28 - 4.09) or heavy smoking (OR = 1.81, 95% CI: 1.02 - 3.22) was a risk factor. The CYP2E1 C1/C1 genotype significantly increased the risk of PCa (OR = 1.71, 95% CI: 1.04 - 2.82) and apparently interacted with drinking (OR = 2.21, 95% CI: 1.06 - 4.59). Heavy smokers with the C1/C1 genotype showed an increased risk of PCa (OR = 2.80, 95% CI: 1.20 - 6.56), as compared with non-smokers carrying the genotype of C1/C2 or C2/C2.
The risk of PCa obviously increases in individuals with both the CYP2E1 C1/C1 genotype and the habit of smoking or drinking, and it has a significant positive correlation with the dose of tobacco exposure.
Zhonghua nan ke xue = National journal of andrology 02/2009; 15(1):7-11.
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ABSTRACT: To study the molecular mechanism of epididymal protease inhibitor (Eppin) modulating the process of prostate specific antigen (PSA) digesting semenogelin (Sg).
Human Sg cDNA (nucleotides 82-849) and Eppin cDNA (nucleotides 70-723) were generated by polymerase chain reaction (PCR) and cloned into pET-100D/TOPO. Recombinant Eppin and Sg (rEppin and rSg) were produced by BL21 (DE3). The association of Eppin with Sg was studied by far-western immunoblot and radioautography. In vitro the digestion of rSg by PSA in the presence or absence of rEppin was studied. The effect of anti-Q20E (N-terminal) and C-terminal of Eppin on Eppin-Sg binding was monitored.
Eppin binds Sg on the surface of human spermatozoa with the C-terminal of Eppin (amino acids 75-133). rSg was digested with PSA and many low molecular weight fragments were produced. When rEppin is bound to rSg, then digested by PSA, incomplete digestion and a 15-kDa fragment results. Antibody binding to the N-terminal of rEppin did not affect rSg digestion. Addition of antibodies to the C-terminal of rEppin inhibited the modulating effect of rEppin.
Eppin protects a 15-kDa fragment of rSg from hydrolysis by PSA.
Asian Journal of Andrology 09/2008; 10(5):770-5. · 1.52 Impact Factor
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ABSTRACT: To study the distribution of FASL-844 polymorphism in southern Chinese males of Han nationality and examine the contribution of the polymorphism to susceptibility of idiopathic azoospermia and oligozoospermia.
FASL-844 polymorphism was genotyped by polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP) in 184 infertile patients with idiopathic azoospermia or severe oligozoospermia 236 normal fertile male controls.
Frequencies of FASL-844 CT and TT genotypes of the patients were significantly different from those of the controls (P = 0.024; P = 0.008). Males with FASL-844 TT genotype had an increased risk of idiopathic azoospermia or severe oligozoospermia compared with those with CC genotype (OR 2.76, 95% CI: 1.20-6.35), and even a higher risk when compared with those with CC and CT genotypes (OR 2.90, 95% CI: 1.28-6.58).
FASL-844 polymorphism appears to be a genetic predisposing factor of idiopathic azoospermia or severe oligozoospermia among southern Chinese Han males.
Zhonghua nan ke xue = National journal of andrology 05/2007; 13(4):302-5.
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ABSTRACT: To explore the clinical significance of azoospermia factor (AZF) region deletion.
Detection of the Y-link sequence tagged sites in AZF region was conducted by means of 2 multiplex polymerase chain reactions among 80 patients with severe oligozoospermia and 63 patients with azoospermia, totally 143.
Twenty-one cases of microdeletion were found among the 143 infertile patients with a prevalence of 14.7%. PCR analysis showed that deletion of the portions of Yq in 12 of the 62 idiopathic infertility patients, 3 being with severe oligozoospermia and 9 with azoospermia, and in 9 out of the 81 patients with non-idiopathic infertility. PCR analysis of 40 normal fertile men did not detect any abnormality. The results of the microdeletion showed that 1 patient had a microdeletion in the AZFa region with sY84 and sY86 (1/21, 4.8%), 2 patients presented a large deletion involving sY127 and sY143 from AZFb, and sY254 and sY255 from AZFc (1/21, 9.5%). Two patients had the deletions located in AZFb region (2/21, 9.5%), and 16 patients had a deletion on the AZFc region involving the DAZ (deleted in azoospermia) gene (16/21, 76.2%) Among the 21 infertile men 4 showed a testicular cytologic picture of maturation arrest, 6 patients had severe hypospermatogenesis, and 11 had Sertoli cell-only syndrome. There were not significant differences in location and extent of deletions between the patients with idiopathic infertility and those with non-idiopathic infertility.
It is recommended to carry out screening of microdeletion of Y chromosome among the patients with idiopathic and non-idiopathic infertility, especially the candidates for intracytoplasmic sperm injection.
Zhonghua yi xue za zhi 06/2006; 86(20):1376-80.
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ABSTRACT: Congenital agenesis of the seminal vesicle (CASV) is frequently associated with congenital absence of the vas deferens (CAVD) or ipsilateral congenital vasoureteral communication. We reported two cases of a rare condition that the vas deferens open ectopically into Mullerian duct cyst associated with agenesis of the ipsilateral seminal vesicle. The diagnosis was confirmed by vasography. Transurethral unroofing of the Mullerian duct cyst was performed in both patients with favourable results, however, assisted reproductive technology (ART) was still necessary for them to father children.
Asian Journal of Andrology 01/2006; 7(4):449-52. · 1.52 Impact Factor
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ABSTRACT: To study the diagnosis and treatment of acute prostatitis.
The data of 35 cases of acute prostatitis who were admitted from January 2001 to March 2004 were reviewed. The main clinical manifestations were chills, fever, frequency, urgency and dysuria. All patients were treated with antibiotics and supportive measures. Two patients underwent surgical drainage for prostate abscess. Three patients were indwelled catheter for acute urinary retention.
All patients'temperatures returned to normal within 3 to 5 days. Blood and urine routine tests, urine culture and transurethral ultrasound examination results returned to normal 2 weeks later. Q maximal urinary flow rate improved in patients with dysuria.
After diagnosis of acute prostatitis, full-dose of sensitive antibiotics should be given to all patients for some time as early as possible. At the same time, supportive therapy may be important to some patients. Surgical drainage should be used for patients with prostate abscess.
Zhonghua nan ke xue = National journal of andrology 01/2006; 11(12):897-9.
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ABSTRACT: To investigate the clinical characteristics, diagnosis and therapeutic strategies of congenital absence of the vas deferens (CAVD).
We summarized the clinical data of 81 cases of CAVD and investigated clinical features, diagnosis and management of the disease.
Seventy-nine cases of infertility were diagnosed as CAVD at the clinic, and 2 were diagnosed during surgical exploration. The population consisted of 40 cases of congenital bilateral absence of the vas deferens (CBAVD), 25 cases of congenital unilateral absence of the vas deferens (CUAVD), and 16 cases of segmental agenesis of the vas deferens. Seventy-four spouses received the treatment of assisted reproductive techniques, including intracytoplasmic sperm injection (ICSI) in 12 cases, and 4 of them achieved pregnancy.
CAVD frequently presents with infertility. CBAVD may manifest as obstructive azoospermia, and CUAVD and segmental vasal agenesis as oligospermia, asthenospermia, or obstructive azoospermia. CAVD is usually not difficult to diagnose, but may be missed due to careless examination. Assisted reproductive technology (ART) plays a key role in the management of CAVD.
Zhonghua nan ke xue = National journal of andrology 12/2005; 11(11):818-21.
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ABSTRACT: Cytogenetic and molecular studies of azoospermic and oligozoospermic males have suggested the presence of azoospermia factors (AZF) in the Y chromosome. Deletion in AZF regions has been reported to disrupt spermatogenesis and cause infertility. Several candidate genes responsible for spermatogenesis have been identified in this region and some of them are thought to be functional in human spermatogenesis. And we reported clinical and molecular studies of Y chromosome microdeletions in Chinese. This study aimed at assessing the frequency of microdeletions in Chinese men with idiopathic and nonidiopathic infertility problems and dicussing the clinical significance of the AZF region.
In this study, we screened 143 infertile men (62 with idiopathic infertilitas and 81 with nonidiopathic infertilitas), in whom karyotype, sperm count, hormonal parameters and fine needle aspiration cytology were evaluated. Genomic DNA was extracted from the peripheral leukocytes. Molecular analysis was performed by two multiplex polymerase chain reactions (PCR) using a set of a sequence tagged sites (STS) from 3 different regions of the Y chromosome: AZFa (sY84, sY86), AZFb (sY127, sY134), AZFc (sY254, sY255).
Nineteen point four percent of idiopathic males (12/62, 19.4%) had microdeletions of either the AZFa, AZFb, AZFc or AZFb + c region. Significantly, a high frequency of microdeletions (9/81, 11.1%) was found in nonidiopathic patients with varicocele and cryptorchidism. No deletions were found in healthy fertile men. There were no significant differences in the localization and extent of deletions between idiopathic and nonidiopathic patients.
The knowledge of the presence of these deletions in idiopathic and nonidiopathic cases is important to understand the prognosis, better management and counsel these patients accordingly. Furthermore, a more extended screening for Y chromosome microdeletions in idiopathic and nonidiopathic men, particularly candidates for intracytoplasmic sperm injection, is recommended.
Chinese medical journal 10/2005; 118(17):1462-7. · 0.86 Impact Factor
