Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China

We conducted an analysis of the Kallmann syndrome 1 （KAL-1） genotype in 17 patients with Kallmann syndrome （KS）, 9 patients with normosmic idiopathic hypogonadotropic hypogonadism （nlHH） and 20 age-matched normal men in Northwestern China. To do this, we used multiplex PCR analysis with exon-flanking primers and automated sequencing techniques with peripheral blood DNA samples. Intragenic deletions were found at the KAL-1 locus in two KS patients. One case with an atrial septal defect exhibited an intragenic deletion of exon 6. Another KS patient with cryptorchidism had intragenic deletions of exons 5 and 6. For the nlHH patients, no abnormalities were observed in the exonic and flanking sequences of KAL-1. This report describes two intragenic deletions of KAL-1 in two KS patients and suggests that KAL-1 deletion might be more prevalent in KS patients with other congenital organ abnormalities than those described previously in other series from Northwestern China.

Genetic polymorphism of glutathione S-transferase T1 gene and susceptibility to idiopathic azoospermia or oligospermia in northwestern China

Aim： To investigate the association of glutathione S-transferase T1 （GSTT1） gene polymorphism in patients with idiopathic azoospermia or oligospermia in the northwestern China population. Methods： In the case-control study, GSTT1 genotypes were identified by multiplex polymerase chain reaction （PCR） with peripheral blood DNA samples from 78 patients with idiopathic azoospermia, 103 patients with idiopathic oligospermia and 156 age-matched controls with normal sperm concentration and motility, according to the criteria adapted from World Health Organization guidelines. All of the patients and controls were from northwestern China. Results： There is a significant association between GSTT1 null genotype with idiopathic azoospermia risk （odds ratio [OR]： 2.36, 95% confidence interval [CI]： 1.33-4.20, P = 0.003） or idiopathic oligospermia risk （OR： 2.00, 95% CI： 1.17-3.27, P = 0.010）. Conclusion： GSTT1 null genotype is a predisposing risk factor for sporadic idiopathic azoospermia or oligospermia in northwestern China. （Asian J Androl 2008 Mar; 10： 266-270）

Comprehensive treatment for primary right renal diffuse large B-cell lymphoma with a renal vein tumor thrombus:A case report

BACKGROUND Renal involvement in lymphoma is commonly associated with widespread nodal or extranodal lymphoma.Primary renal diffuse large B-cell lymphoma is an extremely rare extranodal lymphoma,accounting for fewer than 1%of all renal masses.Interestingly,the patient in this study had a renal vein tumor thrombus that was observed after laparoscopic radical nephrectomy.CASE SUMMARY We report the case of a 56-year-old female patient with primary renal lymphoma and a renal vein tumor thrombus whose first symptom was right pain in the back and gross hematuria.Histopathology revealed primary renal diffuse large B-cell lymphoma.The patient received 8 standard cycles of rituximab with cyclophosphamide,doxorubicin,vincristine,and prednisone chemotherapy after surgery,and no obvious signs of recurrence were observed during the one-year follow-up.CONCLUSION We evaluated comprehensive treatment of primary renal diffuse large B-cell lymphoma and multidisciplinary management of this malignancy.

Glutathione S-transferase genetic polymorphisms and fluoride-induced reproductive toxicity in men with idiopathic infertility

Male infertility caused by idiopathic oligoasthenospermia(OAT)is known as idiopathic male infertility.Glutathione S-transferase(GST)and fluoride may play important roles in idiopathic male infertility,but their effects are still unknown.Our study examined the relationship between GST polymorphisms and fluoride-induced toxicity in idiopathic male infertility and determined the underlying mechanism.Sperm,blood,and urine samples were collected from 560 males.Fluoride levels were measured by a highly selective electrode method,and GST genotypes were identified using polymerase chain reaction(PCR)and PCR-restriction fragment length polymorphism(PCR-RFLP).Semen parameters,DNA fragmentation index(DFI),mitochondrial membrane potential(MMP),and oxidative stress(OS)biomarkers were statistically assessed at the P<0.05 level.Compared with healthy fertile group,semen parameters,fluoride levels,OS biomarkers,sex hormone levels,and MMP and DFI levels were lower in the idiopathic male infertility group.For glutathione S-transferase M1(GSTM1[-])and glutathione S-transferase T1(GSTT1[-])or glutathione S-transferase P1(GSTP1)mutant genotypes,levels of semen fluoride,OS,MMP,and DFI were considerably higher,and the mean levels of sperm parameters and testosterone were statistically significant in GSTM1(+),GSTT1(+),and GSTP1 wild-type genotypes.Both semen and blood fluoride levels were associated with oxidative stress in idiopathic male infertility patients.Elevated fluoride in semen with the genotypes listed above was linked to reproductive quality in idiopathic male infertility patients.In conclusion,GST polymorphisms and fluorine may have an indicative relationship between reproductive quality and sex hormone levels,and OS participates in the development of idiopathic male infertility.

Effects of mild/asymptomatic COVID-19 on semen parameters and sex-related hormone levels in men:a systematic review and meta-analysis

Coronavirus disease 2019(COVID-19)has yet to be proven to alter male reproductive function,particularly in the majority of mild/asymptomatic patients.The purpose of this study was to explore whether mild/asymptomatic COVID-19 affects semen quality and sex-related hormone levels.To find suitable comparative studies,a systematic review and meta-analysis was done up to January 22,2022,by using multiple databases(Web of Science,PubMed,and Embase).Preferred Reporting Items for Systematic Reviews and Meta-Analyses(PRISMA)guidelines were used to identify and choose the studies.Meta-analysis was used to examine the semen parameters and sex-related hormones of mild/asymptomatic COVID-19 patients before and after infection.The effects of semen collection time,fever,and intensity of verification on semen following infection were also investigated.A total of 13 studies(n=770)were included in the analysis,including three case-control studies,six pre-post studies,and four single-arm studies.A meta-analysis of five pre-post studies showed that after infection with COVID-19,sperm concentration(I^(2)=0;P=0.003),total sperm count(I^(2)=46.3%;P=0.043),progressive motility(I^(2)=50.0%;P<0.001),total sperm motility(I^(2)=76.1%;P=0.047),and normal sperm morphology(I^(2)=0;P=0.001)decreased.Simultaneously,a systematic review of 13 studies found a significant relationship between semen collection time after infection,inflammation severity,and semen parameter values,with fever having only bearing on semen concentration.Furthermore,there was no significant difference in sex-related hormone levels before and after infection in mild/asymptomatic patients.Mild/asymptomatic COVID-19 infection had a significant effect on semen quality in the short term.It is recommended to avoid initiating a pregnancy during this period of time.

Genetic polymorphisms of CYP2D6*10 and the effectiveness of combined tamoxifen citrate and testosterone undecanoate treatment in infertile men with idiopathic oligozoospermia

Tamoxifen citrate, as the first line of treatment for infertile men with idiopathic oligozoospermia, was proposed by the World Health Organization （WHO）, and testosterone undecanoate has shown benefits in semen values. Our objective was to assess the effectiveness of treatment with tamoxifen citrate and testosterone un- decanoate in infertile men with idiopathic oligozoospermia, and whether the results would be affected by polymor- phisms of CYP2D6＊10. A total of 230 infertile men and 147 controls were included in the study. Patients were treated with tamoxifen citrate and testosterone undecanoate. Sex hormone, sperm parameters, and incidence of spontaneous pregnancy were detected. There were no significant differences between the control and patient groups with respect to CYP2D6＊10 genotype frequencies （P〉0.05）. The follicle-stimulation hormone （FSH）, luteinizing hormone （LH）, and testosterone （T） levels were raised, and sperm concentration and motility were increased at 3 months and became significant at 6 months, and they were higher in the wild-type allele （C/C） than in the heterozygous variant allele （C/T） or homozygous variant allele （T/T） subgroups （P〈0.05）. In addition, the percentage of normal morphology was raised at 6 months, and represented the highest percentage in the C/C subgroup （P〈0.05）. The incidence of spontaneous pregnancy in the C/C subgroup was higher than that in the C/T or T/T subgroups （P〈0.01）. This study showed that the CYP2D6＊10variant genotype demonstrated worse clinical effects in infertile men with idiopathic oligozoospermia.

Metabolic enzyme gene polymorphisms predict the effects of antioxidant treatment on idiopathic male infertility

To explore the relationship between genetic polymorphisms of metabolic enzymes such as CYP1A1,CYP2D6,GSTM1,GSTT1,and GSTP1 and idiopathic male infertility.By observing the efficacy of antioxidants in the treatment of idiopathic male infertility,the effect of metabolic enzyme gene polymorphisms on antioxidant therapy in patients with idiopathic male infertility was prospectively studied.This case-control study included 310 men with idiopathic infertility and 170 healthy controls.The cytochrome P4501A1(CYP1A1),cytochrome P4502D6(CYP2D6),glutathione S-transferase M1(GSTM1),glutathione S-transferase T1(GSTT1),and glutathione S-transferase P1(GSTP1)genotypes in peripheral blood samples were analyzed by polymerase chain reaction(PCR)and PCR-restriction fragment length polymorphism(PCR-RFLP).The idiopathic male infertility group was treated with vitamin C,vitamin E,and coenzyme Q10 for 3 months and followed up for 6 months.GSTM1(-),GSTT1(-),and GSTM1/T1(-/-)in the idiopathic male infertility groups were more common than those in the control group.The sperm concentration,motility,viability,mitochondrial membrane potential(MMP),and seminal plasma total antioxidant capacity(T-AOC)level in patients with GSTM1(-),GSTT1(-),and GSTM1/T1(-/-)were lower than those in wild-type carriers,and the sperm DNA fragmentation index(DFI),8-hydroxy-2'-deoxyguanosine(8-OH-dG),and malondialdehyde(MDA)and nitric oxide(NO)levels were higher.Therefore,oxidative damage may play an important role in the occurrence and development of idiopathic male infertility,but antioxidant therapy is not effective in male infertility patients with GSTM1 and GSTT1 gene deletions.

Glutathione S-transferase T1： a potential marker for the selection of varicocelectomy in infertile male patients with varicocele

Dear Editor,Varicocele is a common cause of male infertility, and the prevalence ofvaricocele among men attending infertility clinics ranges from 30% to 40%. The effects ofvaricocele are diverse, but often result in semen abnormalities, decreased testicular volume and decline in Leydig cell function.