[Impact of autosomal dominant polycystic kidney disease on the outcomes of intracytoplasmic sperm injection in infertile males].

OBJECTIVE: To summarize the features and treatment of male infertility induced by autosomal dominant polycystic kidney disease (ADPKD), and compare the outcomes of intracytoplasmic sperm injection (ICSI) for infertile men with ADPKD and those with congenital bilateral absence of vas deferens (CBAVD). METHODS: We retrospectively analyzed 21 cases of ADPKD-induced infertility, 15 treated by ICSI (group A), and another 164 cases of strictly matched CBAVD-induced infertility (group B). We compared the two groups in the couples' age, the number of ICSI oocytes, and the rates of fertilization, transferrable embryos, good embryos, embryos implanted, clinical pregnancy, biochemical pregnancy, early abortion, singleton and twins in the first cycle. RESULTS: After 28 cycles of ICSI, 10 of the 15 ADPKD-induced infertility patients achieved clinical pregnancy, including 7 cases of live birth, 1 case of spontaneous abortion, and 2 cases of pregnancy maintenance. No significant differences were observed between groups A and B in the couples' age, the wives' BMI, or the numbers of ICSI oocytes and embryos transplanted (P >0.05), nor in the rates of ICSI fertilization (72.64% vs 76.17%), transferrable embryos (51.28% vs 63.24%), quality embryos (38.46% vs 49.83%), embryo implantation (17.64% vs 38.50%), abortion (0 vs 9.23%), singleton (50% vs 81.54%) and twins (50% vs 18.46%). However, the rates of clinical pregnancy (13.33% vs 42.68%, P = 0.023 <0.05) and biochemical pregnancy (13.33% vs 39.63%, P = 0.032 <0.05) were significantly lower in group A than in B. CONCLUSION: ICSI is effective in the treatment of male infertility induced by either ADPKD or CBAVD, but the ADPKD cases have a lower success rate than the CBAVD cases in an individual cycle. The affected couples should be informed of the necessity of prenatal genetic diagnosis before embryo implantation and the inevitable vertical transmission of genetic problems to the offspring.

The methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and tumor risk: evidence from 134 case-control studies.

Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism, which is essential for DNA synthesis and methylation. Genetic variations in the MTHFR gene seem to contribute to a decreased activity of MTHFR, ultimately confer increased susceptibility to cancer. As the most extensively studied polymorphism, MTHFR C677T polymorphism was shown to contribute to cancer susceptibility but the results were inconsistent. The authors performed a meta-analysis including 134 studies (46,207 cases and 69,160 controls) to address the issue. Odds ratios (ORs) with corresponding 95% confidence intervals (CIs) were used to assess the association. Overall, a significant elevated risk of cancer was associated with the MTHFR C677T polymorphism in T-allele versus C-allele comparison (OR = 1.06, 95% CI 1.02-1.11, P(heterogeneity) < 0.001), homozygote model (OR = 1.08, 95% CI 1.01-1.17, P(heterogeneity) < 0.001) and dominant model (OR = 1.05, 95% CI 1.00-1.10, P(heterogeneity) < 0.001). In the stratified analyses, significantly increased cancer risks were indicated among Asians in all genetic models except for heterozygote model. Further analysis revealed that C677T was significantly associated with an increased risk of esophageal and stomach cancer. This meta-analysis supports an association between the MTHFR C677T polymorphism and increased risk of esophageal and stomach cancer, especially among Asians. Additionally, more high-quality studies and that the covariates responsible for heterogeneity should be controlled to obtain a more conclusive response about the function of MTHFR C677T in cancer.

[DAZL and male infertility: an update].

DAZL, a member of the DAZ family, plays a key role in human spermatogenesis. It regulates the promoter via genetic modification, especially DNA methylation, promoting the transcription of DAZL. Besides, the relation of DAZL SNPs with male infertility has been a hot spot of research for many years. It is deduced that local and ethnic factors may be associated with the failure of spermatogenesis. This article presents an overview on the results of recent studies, changes in the DNA methylation of DAZL in spermatogenesis, and the association of DAZL SNPs with male infertility, aiming to provide a new theoretical basis and clinical strategy for the treatment of male infertility.

[Testis-sparing surgery for benign testicular tumor].

OBJECTIVE: To investigate the safety and feasibility of testis-sparing surgery (TSS) in the treatment of testicular tumor. METHODS: We retrospectively analyzed the clinical data of 8 cases of benign testicular tumor treated by TSS in our hospital from October 2005 to March 2012. RESULTS: The 8 patients, aged 18-67 (mean 45) years, were preoperatively diagnosed with benign testicular tumor and all underwent partial testis resection. Rapid intraoperative pathology showed the incisal margins to be negative. Postoperative pathological examination confirmed Sertoli cell tumor in 3 cases, adenomatoid tumor in another 3, and mature teratoma in the other 2. The patients were followed up for 6 months to 7 years (mean 4 years), which revealed no relapse and metastasis, nor significant differences from the baseline in the testosterone level, IIEF score, and routine semen parameters. CONCLUSION: Testis-sparing surgery is one of the effective options for the management of benign testicular tumor, which can maximally preserve the testis tissue and protect the patient's sexual function.

[Modified prepuce-degloving repair for urethrocutaneous fistula following hypospadias surgery].

OBJECTIVE: To investigate the clinical effect and application value of the modified method of prepuce-degloving repair (PDR) in the treatment of urethrocutaneous fistula (UCF) following hypospadias surgery. METHODS: We retrospectively analyzed 87 cases of UCF caused by hypospadias repair from May 2001 to December 2011, of which 61 were treated by simple closure or Y-V plasty of the fistula (group A), and the other 26 by modified PDR (group B). We compared the success rate of surgery and long-term recurrence between the two groups. RESULTS: The total success rates of repair were 78.7 and 96.2% in groups A and B, respectively. Thirteen cases in group A did not respond to surgery, of which 6 failed to be cured by the second operation but later were treated successfully by modified PDR. In comparison, there was only 1 case of failure in group B, which was cured by a second PDR. CONCLUSION: Modified PDR can significantly improve the success rate and reduce the recurrence rate of UCF after hypospadias surgery, which deserves wide clinical application.

Improving the understanding of PI-RADS in practice: characters of PI-RADS 4 and 5 lesions with negative biopsy.

The Prostate Imaging Reporting and Data System (PI-RADS) has good ability to identify the nature of lesions on prostate magnetic resonance imaging (MRI). However, some lesions are still reported as PI-RADS 4 and 5 but are biopsy-proven benign. Herein, we aimed to summarize the reasons for the negative prostate biopsy of patients who were assessed as PI-RADS 4 and 5 by biparameter MRI. We retrospectively sorted out the prostate MRI, treatment, and follow-up results of patients who underwent a biparameter MRI examination of the prostate in The First Affiliated Hospital of Nanjing Medical University (Nanjing, China) from August 2019 to June 2021 with PI-RADS 4 and 5 but a negative biopsy. We focused on reviewing the MRI characteristics. A total of 467 patients underwent transperineal prostate biopsy. Among them, biopsy pathology of 93 cases were negative. After follow-up, 90 patients were ruled out of prostate cancer. Among the 90 cases, 40 were considered to be overestimated PI-RADS after review. A total of 22 cases were transition zone (TZ) lesions with regular appearance and clear boundaries, and 3 cases were symmetrical lesions. Among 15 cases, the TZ nodules penetrated the peripheral zone (PZ) and were mistaken for the origin of PZ. A total of 17 cases of lesions were difficult to distinguish from prostate cancer. Among them, 5 cases were granulomatous inflammation (1 case of prostate tuberculosis). A total of 33 cases were ambiguous lesions, whose performance was between PI-RADS 3 and 4. In summary, the reasons for "false-positive MRI diagnosis" included PI-RADS overestimation, ambiguous images giving higher PI-RADS, diseases that were really difficult to distinguish, and missed lesion in the initial biopsy; and the first two accounted for the most.

[Progress in the studies of human epididymal secretive proteins].

There are over 200 secretive proteins in the epididymis. Spermatozoa are generally considered to become mature and full-functional after interacting with secretive proteins in the epididymis. This review is aimed at summarizing some aspects of the biochemical, molecular and functional characterization of some new proteins recently detected in human epididymis, and is expected to contribute to further researches on the mechanism of epididymal reproduction and contraception.

The role of mitochondrial aconitate (ACO2) in human sperm motility.

Deficiencies in tricarboxylic acid (TCA) cycle enzymes have been shown to cause a wide spectrum of human diseases, including malignancies and neurological and cardiac diseases. In mammalian spermatozoa mitochondria, the TCA cycle is known to be a crucial metabolic pathway that contributes to produce ATP. There is little known about the role and mechanism of mitochondrial aconitase (ACO2), which is an important regulatory enzyme of the TCA cycle, in asthenozoospermia. In the current study, immunofluorescence staining localized ACO2 to the human sperm mid-piece. By immunoblotting, we demonstrated that the level of ACO2 protein in asthenozoospermic samples was significantly decreased compared with that in normal fertile men. Importantly, we first observed that co-incubation of isocitrate with low motile sperm suspensions significantly improved sperm motility, which might be due to elevated intracellular ATP. The improvement of the sperm motility by isocitrate may have important clinical implications in the treatment of asthenozoospermia and certainly warrants further investigation.