Target gene panel method versus whole-exome sequencing in detection of idiopathic hypogonadotropic hypogonadism in males / 中华男科学杂志

Objective@#To compare the efficiency of the target gene panel method and whole-exome sequencing (WES) in detecting idiopathic hypogonadotropic hypogonadism (IHH), and select a more suitable gene detection method.@*METHODS@#We selected 24 genes closely related to the molecular pathogenesis of IHH to make up the gene panel, detected the mutation sites in 73 patients with IHH using the panel method, and verified the results of sequencing with the Sanger method. Using the key words "idiopathic hypogonadotropic hypogonadism", we searched databases for relevant literature, calculated the positive rate of IHH detected by WES and compared it with that detected with the panel method.@*RESULTS@#Of the 73 cases of IHH detected with the panel method, 7 were found with pathogenic mutations, including 2 cases of FGFR1, 2 cases of CHD7, 2 cases of KISS1R, and 1 case of NR5A1 mutation. Sanger sequencing showed that the positive rate of the panel method was 9.7%. Of the 1 336 articles retrieved, 5 met the inclusion criteria and were included, in which WES revealed a positive rate of about 30%.@*CONCLUSIONS@#For detection of the diseases with clear mutated genes, the panel method is relatively inexpensive and has a high sequencing depth, while for detection of the diseases with complicated genetic patterns and unclear mutated genes, WES is more efficient. Further studies are needed for choice of the two methods for different purpose of detection./.

Relationship of serum vitamin D levels with diabetic microvascular complications in patients with type 2 diabetes mellitus / 中华医学杂志(英文版)

BACKGROUND@#Vitamin D deficiency has been reported to be associated with diabetic microvascular complications, but previous studies have only focused on the relationship between vitamin D and specific complications. Therefore, we aimed to explore the relationship between vitamin D level and diabetic microvascular complications in general, including diabetic retinopathy (DR), diabetic nephropathy (DN), and diabetic peripheral neuropathy (DPN).@*METHODS@#This was a cross-sectional study of 815 patients with type 2 diabetes mellitus (T2DM). Clinical information and laboratory results were collected from the medical records. The relationship between vitamin D and the three diabetic microvascular complications was investigated.@*RESULTS@#The serum 25-hydroxyvitamin D (25 [OH] D) level of patients with DPN and/or DN was significantly lower than that of T2DM patients without any microvascular complications (P < 0.01). Univariate analysis showed that the 25 (OH) D level was related to DPN and DN, but not DR. After adjustment, the 25 (OH) D level was confirmed to be an independent protective factor for DPN (odds ratio [OR]: 0.968, P = 0.004]) and DN (OR: 0.962, P = 0.006). The prevalence of DPN and DN increased significantly as the serum 25 (OH) D levels decreased. Furthermore, patients with both DPN and DN had the lowest concentration of serum 25 (OH) D (P < 0.001), and the prevalence of macroalbuminuria increased more abruptly than that of microalbuminuria across the 25 (OH) D tertiles. Among the patients with vitamin D insufficiency, those with DPN presented more comorbid macroalbuminuria than those without DPN (15.32% vs. 4.91%; P = 0.001).@*CONCLUSIONS@#Vitamin D deficiency is independently associated with higher risk of DPN and DN, but not DR, in T2DM patients. Further, it may be a potential predictor for both the occurrence and severity of DPN and DN.

Effect of indoxyl sulfate on proliferation and expression of inflammatory cytokines and ROS in human periodontal ligament cells / 上海交通大学学报（医学版）

Objective : To explore the effects of Indoxyl sulfate (IS) on proliferation activity, expression of inflammatory factors and reactive oxygen species (ROS) in human periodontal ligament cells (hPDLCs). Methods ¡¤ The primary hPDLCs were cultured by using tissue explant method in vitro. MTT assay was employed to evaluate the effect of IS on proliferation activity of hPDLCs. The mRNA and protein expressions of IL-1β, IL-6, and IL-8 were detected by using real-time PCR and ELISA assay. DCFDA fluorescence probe was used to detect intracellular ROS expression and ROS in the cytoplasm under fluorescence microscope. Results ¡¤ The viability of hPDLCs was inhibited by IS at the concentra-tion of 125 μmol/L on 24, 48 and 72 hours. The inhibitory effect was presented in a dose- and time- dependent manner. IS could upregulate the mRNA and protein expression of inflammatory cytokines including IL-1β, IL-6 and IL-8 as well as promote ROS in hPDLCs. Conclusion ¡¤ IS may play an important role in the association between chronic kidney diseases and periodontitis through inhibiting the activity of hPDLCs, pro-moting the expression of inflammatory cytokines and increasing intracellular ROS level.

Correlation between CFTR 5T polymorphisms and the risk of congenital bilateral absence of the vas deferens / 中华男科学杂志

Objective@#To investigate the association between the 5T site polymorphism of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and the risk of congenital bilateral absence of the vas deferens (CBAVD).@*METHODS@#This case-control study included 40 male patients with isolated CBAVD in the experimental group and 104 healthy men as controls. We used the Sanger sequencing method to encode the CFTR gene intron 9 (TG) m-n(T) and type the haplotypes, followed by a review and meta-analysis of the data obtained from the experiment and relevant literature from the PubMed, Web of science, Medline, CNKI and an exploration of the correlation between 5T mutation and the risk of CBAVD.@*RESULTS@#Sanger sequencing revealed 6 genotypes in the CBAVD patients, including TG11-5T, TG12-5T, TG13-5T, TG11-7T, TG12-7T and TG11-9T, and 7 in the healthy controls, which were TG11-5T, TG12-5T, TG10-7T, TG11-7T, TG12-7T, TG13-7T and TG11-9T. Compared with the controls, the CBAVD patients showed obviously increased rates of the TG12-5T haplotype (4.81% ［10/208］ vs 16.25% ［13/80］) and the TG13-5T haplotype (0% vs 7.5% ［6/80］), but no significant difference in the TG11-5T haplotype (1.92% ［4/208］ vs 2.50% ［2/80］). There was a statistically significant difference between the experimental and control groups in the TG12_13-5T haplotype (OR = 7.40, 95% CI: 4.83－11.34, P < 0.01). The TG12_13-5T haplotype was found to be highly correlated with CBAVD.@*CONCLUSIONS@#The haplotype of TG12_13-5T increases the risk of CBAVD in men, which has provided a theoretical basis for male reproduction.

Correlation of the single nucleotide polymorphism rs662 of PON1 with the risk of male infertility / 中华男科学杂志

<p><b>Objective</b>To investigate the correlation between the single nucleotide polymorphism (SNP) rs662 of the paraoxonase 1 gene (PON1) and the risk of male infertility.</p><p><b>METHODS</b>This case-control study included 403 male idiopathic infertility patients aged 29.00 ± 4.48 years in the case group and 329 normal fertile men aged 28.28 ± 4.08 years as healthy controls. We obtained DNA from the peripheral venous blood of the subjects, genotyped the SNP rs662 of PON1 by Sequenom MassArray, and analyzed the association between different genotypes of PON1 rs662 and male infertility using the logistic regression model.</p><p><b>RESULTS</b>Compared with the normal controls, the infertility patients showed a significantly increased level of follicle-stimulating hormone (FSH) (［16.30 ± 17.76］ vs ［4.72 ± 2.51］ U/L, P < 0.01) but a decreased percentage of progressively motile sperm (PMS) (［7.40 ± 14.17］ % vs ［41.93 ± 9.06］ %, P < 0.01) and sperm concentration (［2.74 ± 3.64］ vs ［75.83 ± 63.66］ ×10⁶/ml, P < 0.01). Statistically significant differences were not found in the other parameters between the two groups of subjects, nor in the correlation of male infertility with the heterozygous genotype GA versus the wild homozygous genotype GG (OR = 0.98, 95% CI: 0.63－1.53, P = 0.923) or the homozygous genotype AA versus the wild homozygous genotype GG (OR = 0.87, 95% CI: 0.56－1.34, P = 0.525).</p><p><b>CONCLUSIONS</b>The SNP rs662 of PON1 was not correlated with male infertility, which, however, needs to be confirmed by further studies with larger samples from a larger area.</p>

Correlation of the single nucleotide polymorphisms rs34349826 and rs6521 of the LHB gene with male infertility in Chinese men / 中华男科学杂志

<p><b>Objective</b>To study the relationship of the single nucleotide polymorphisms (SNP) rs34349826 (c.104 A>G) and rs6521 (c.114 C>G) of the luteinizing hormone beta-subunit (LHB) gene with male infertility in Chinese men.</p><p><b>METHODS</b>This case-control study included 405 males with primary infertility (the infertility group) and 424 normal fertile men (the control group), the former again divided into subgroups of oligospermia, severe oligozoospermia and azoospermia according to the sperm concentration. Clinical data were collected from all the subjects and genomic DNA obtained from their peripheral blood for genotyping rs34349826 and rs6521 of the LHB gene by Sequence MassArray. We analyzed the correlation of male infertility with the SNPs of the two loci using the logistic regression model as well as its association with their haplotype combination with the SHEsis online software.</p><p><b>RESULTS</b>There were statistically significant differences between the control and infertility groups in the semen volume (［3.51 ± 1.36］ vs ［3.74 ± 1.71］ ml, P <0.05), sperm concentration (［79.21 ± 61.60］ vs ［27.37 ± 30.80］ ×10⁶/ml, P <0.01), percentage of progressively motile sperm (［39.40 ± 9.64］ % vs ［11.90 ± 14.72］ %, P <0.01), and levels of serum luteinizing hormone (LH) (［3.29 ± 1.39］ vs ［6.25 ± 4.83］ IU/L, P <0.01) and follicle-stimulating hormone (FSH) (［4.56 ± 2.31］ vs ［15.64 ± 17.03］ IU/L, P <0.01). Logistic regression analysis revealed no correlation between male infertility and the genotypes of the rs34349826 and rs6521 loci of the LHB gene, and similar results were found in the subgroups of the infertile males. SHEsis analysis on the haplotypes of the rs34349826 and rs6521 loci showed the GG genotype combination to be a protective factor against male infertility.</p><p><b>CONCLUSIONS</b>The rs34349826 and rs6521 loci of the LHB gene were not related to male infertility, which can be further confirmed by larger-sample studies. The GG genotype combination is a protective factor against male infertility.</p>

Kallmann syndrome with deafness caused by SOX10 mutation: Advances in research / 中华男科学杂志

The transcription factor SOX10, as a major actor in the development of the neural crest, plays a key role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation. Abnormalities of neural crest development in humans lead to a number of genetic diseases known as neurocristopathies or neural crest disorders. The mutation of SOX10 can cause Kallmann syndrome (KS), which is a clinically and genetically heterogeneous condition and defined by the association between anosmia and hypogonadotropic hypogonadism due to incomplete migration of neuroendocrine gonadotropin-releasing hormone (GnRH) cells along the olfactory, vomeronasal, and terminal nerves. Since then, there have been a number of related reports that mutation of SOX10 will lead to KS with deafness. This review focuses on the SOX10 gene and the advances in the diagnosis and genetic studies of KS with deafness caused by the mutatuin of SOX10.

Nucleotide polymorphism rs4880 of the SOD2 gene and the risk of male infertility / 中华男科学杂志

Objective@#To investigate the correlation of the single nucleotide polymorphism (SNP) rs4880 of the superoxide dismutase 2 (SOD2) gene with the risk of male infertility.@*METHODS@#This casecontrol study included 519 male patients with idiopathic infertility (aged 19－40 ［28.93±4.93］ years) in the case group and 338 fertile men (aged 19－40 ［28.40±4.25］ years) in the control group. We collected the clinical data, genotyped the SNP rs4880 of the SOD2 gene by Sequenom Mass Array, and analyzed the association of different genotypes with male infertility using the logistic regression model.@*RESULTS@#Statically significant differences were observed between the case and control groups in the level of folliclestimulating hormone (FSH) (［4.72±2.51］ vs ［15.65±17.24］ U/L, P< 0.01), the percentage of progressively mobile sperm (［9.12±13.5］ vs ［41.95±9.03］%, P< 0.01), and sperm concentration (［12.95±24.38］ vs ［72.88±45.60］ ×106/ml, P< 0.01), but not in other parameters. No correlation was found between male infertility and the heterozygous genotype TC (OR = 0.90, 95% CI: 0.65－1.25, P = 0.516) or the homozygous genotype CC (OR=1.49, 95% CI: 0.38－5.81, P = 0.566) as compared with the wild genotype TT, and similar results were obtained in the analysis of the subgroups.@*CONCLUSIONS@#The SNP rs4880 of the SOD2 gene was not correlated with male infertility, which, however, is to be supported by further studies with larger samples from more areas.

Single nucleotide polymorphism of the TP53 gene is not correlated with male infertility / 中华男科学杂志

Objective@#To investigate the correlation of the single nucleotide polymorphism (SNP) rs1042522 of the tumor protein p53 (TP53) gene with the risk of male infertility.@*METHODS@#This casecontrol study included 380 male patients with idiopathic infertility and 398 normal fertile men as controls from the Nanjing area. We genotyped the SNP rs1042522 of the TP53 gene by Sequence Mass Array and analyzed the correlation of the SNP with male infertility using the logistic regression model.@*RESULTS@#Compared with the normal controls, the patients with idiopathic infertility showed significantly decreased sperm concentration (［77.34±49.24］ vs ［13.13±24.96］ ×106/ml), percentage of progressively motile sperm (［42.55±9.57］ vs ［10.38±5.57］%), serum testosterone level (［14.07±5.36］ vs ［11.89±4.50］ nmol/L), and folliclestimulating hormone level (［16.80±18.20］ vs ［4.55±7.17］ U/L) (P < 0.05) but no statistically significant differences in other parameters. No correlation was observed between the SNP frequencies and male infertility and similar results were found in the subgroups of the cases.@*CONCLUSIONS@#SNP rs1042522 of the TP53 gene is not significantly correlated with the risk of male infertility.

CYP1A1 rs4646422 gene polymorphisms not correlated with male infertility in Chinese Han population / 中华男科学杂志

<p><b>OBJECTIVE</b>To determine the correlation of the CYP1A1 (rs4646422) gene polymorphisms with male infertility in the Chinese Han population.</p><p><b>METHODS</b>Using the Mass ARRAY iPLEX GOLD technique, we conducted a case-control study on theCYPlA1 (rs4646422) gene polymorphisms in 636 infertile males aged 21-49 years (case group) and 442 normal healthy men aged 23-47 years (control group) of the Chinese Han population. We analyzed the genotypes and allele frequencies in the two groups ofsubjects with the SPSS 20.0 software.</p><p><b>RESULTS</b>Compared with the wild homozygous genotype GG, the heterozygous genotype AG (OR = 1.06, 95% CI 0.81-1.38) and homozygous genotype AA (OR = 1.11, 95% CI 0.56-2.21) showed no correlation with male infertility, nor did the mutant allele A (OR = 1.06, 95% CI 0.85-1.32) in comparison with the wild allele G.</p><p><b>CONCLUSION</b>The CYP1A1 (rs4646422) gene polymorphisms might not be correlated with male infertility in the Chinese Han population.</p>

Androgen receptor gene polymorphisms and male infertility / 中华男科学杂志

The androgen receptor (AR), as a ligand-dependent transcription protein and a member of the steroid receptor superfamily widely present in the body, is involved in the adjustment of the function of androgens and plays an important role in spermatogenesis. Androgens participate in spermatogenesis by binding AR and initiating the expression of the target gene. The polymorphisms of the AR gene may change the structure of AR and affect its avidity of binding androgens, making their downstream target genes unable to transcribe proteins. With the development of DNA sequencing techniques, studies on the association of the polymorphisms of the AR gene with male infertility have become a hot topic.

FSH and FSHR gene polymorphisms and male infertility: An update / 中华男科学杂志

Follicle-stimulating hormone (FSH) is synthesized and secreted by the anterior pituitary, which binds to its receptors expressed on the membrane of Sertoli cells in the testis to bring about spermatogenesis. With the development of DNA sequencing technology, FSH SNPs rs10835638 and FSHR SNPs rs6165, rs6166, and rs1394205 were detected, which might directly affect the expression of FSH and activity of FSHR, resulting in male spermatogenic dysfunction. This review focuses on the relationship of FSH and FSHR gene polymorphisms with male infertility.

Protamine gene polymorphisms and male infertility / 中华男科学杂志

Protamine (PRM) is one of the most abundant arginine-rich nucleoproteins in sperm and plays an important role in spermatogenesis. In the late stage of spermatogenesis, the replacement of PRM by histone prompts the closer combination between the nuclear matrix of sperm and nucleoprotein in order for high enrichment and condensation of nuclear chromatin in addition to preventing the sperm genome from mutation induced by internal and external factors. With the development of DNA sequencing techniques, researches on the association between PRM polymorphisms and male fertility are surfacing as a hot field. Many studies show that rs2301365 polymorphism is a risk factor for male infertility and increases the risk of male infertility by 27 - 66%, that rs737008 polymorphism of PRM1 and rs1646022 polymorphism of PRM2 are protective factors against Asian infertility, and that the ratio of PRM1 to PRM2 is intensively associated with male infertility. This review presents an update on the association between PRM gene polymorphisms and male infertility.

Establishment of a rat model of autoimmune prostatitis with purified prostatic proteins / 中华男科学杂志

<p><b>OBJECTIVE</b>To establish a rat model of autoimmune prostatitis using purified prostatic proteins (PPP).</p><p><b>METHODS</b>Thirty-six male Wistar rats were randomized into three groups of equal number to receive intramuscular injection of normal saline (normal control group) and PPP at 15 mg/ml (low-concentration group) and 80 mg/ml (high-concentration group). At 4 weeks after modeling, the rats were sacrificed for HE staining of the prostate tissue and examination of the inflammatory factors IL-8 and IL-10 in the serum, immunoglobulins IgA and IgM, and regulatory T cells Th1/Th2.</p><p><b>RESULTS</b>Three rats died in the high-concentration PPP group but none in the low-concentration PPP and normal control groups. Gross observation of the prostate showed increased volume and hard texture of the prostate in the two PPP groups, but no significant change in the normal controls. Pathological examination exhibited morphological damage to the prostatic tissue and inflammatory cellular infiltration in the experimental rats. The serum level of IL-8 was significantly higher in the low- and high-concentration PPP groups ([129.07 +/- 11.48] and [147.58 +/- 17.70] pg/ml) than in the control ([94.12 +/- 7.04] pg/ml) (P < 0.05), while that of IL-10 was remarkably lower in the former two groups ([227.14 +/- 18.19] and [187.14 +/- 16.32] pg/ml) than in the latter ([252.48 +/- 21.72] pg/ml, P < 0.05). The serum level of IgA was markedly elevated in the low- and high-concentration PPP groups as compared with that in the control ([0.25 +/- 0.37] and [0.31 +/- 0.42] vs [0.19 +/- 0.14] mg/ml, P < 0.05), and so was that of IgM ([0.23 +/- 0.41] and [0.34 +/- 0.58 ] vs [0.17 +/- 0.33] mg/ml, P < 0.05). No significant changes were observed in the levels of regulatory T cells Th1/Th2.</p><p><b>CONCLUSION</b>Both low and high concentrations of purified prostatic proteins can be used for the construction of autoimmune prostatitis models in rats, while low concentration is preferable for its advantages of lower mortality of the rats and inducement of more consistent manifestations of autoimmune prostatitis.</p>

Therapeutic efficacy of compound Xuanju capsule on autoimmune prostatitis in rats: an experimental study / 中华男科学杂志

<p><b>OBJECTIVE</b>To evaluate the therapeutic effect of Compound Xuanju Capsule (CXC) on autoimmune prostatitis in rat models.</p><p><b>METHODS</b>Sixty healthy male Wistar rats were randomly divided into five groups of equal number: blank control, low-concentration purified prostate protein (low-conc PPP), low-conc PPP + CXC treatment, high-concentration PPP (hi-con PPP), and hi-conc PPP + CXC treatment. Autoimmune prostatitis models were established by intragastric administration of PPP solution at 15 mg/ml (low concentration) and 80 mg/ml, respectively. At 30 days after modeling, the rats in the blank control and low-conc and hi-conc PPP model groups were treated with normal saline, and those in the other two groups with CXC at a daily dose of 0.068 g/ml. At 30, 45, and 60 days, all the animals were sacrificed for observation of pathological changes in the prostate tissue and determination of the levels of IL-8, IL-10, and TNF-alpha in the serum.</p><p><b>RESULTS</b>Compared with the PPP models, the hi-conc PPP + CXC group showed significantly reduced levels of IL-8 and TNF-alpha in the serum at 45 days ([148.54 +/- 17.23] and [62.14 +/- 5.59] pg/ml vs [100.77 +/- 11.08] and [32.63 +/- 2.91] pg/ml, P < 0.05) and at 60 days ([143.69 +/- 17.28] and [59.38 +/- 5.50] pg/mlvs [95.77 +/-10.53] and [29.63 +/- 2.66] pg/ml, P < 0.05), and so did the low-cone PPP + CXC group at 45 days ([128.47 +/- 12.21] and [40.43 +/- 3.64] pg/ml vs [111.76 +/- 10.07] and [35.44 +/- 3.17] pg/ml, P < 0.05) and at 60 days ([131.07 +/- 10.93] and [43.34 +/- 3.91] pg/ml vs [97.46 +/- 8.75] and [30.44 +/- 2.75] pg/ml, P < 0.05). The serum level of IL-10 was remarkably elevated in the hi-cone PPP + CXC group as compared with that of the PPP models at 45 and 60 days ([189.14 +/- 16.78] and [184.14 +/- 15.89] pg/ml vs [230.48 +/- 29.96] and [248.48 +/- 31.03] pg/ml, P < 0.05), and so was it in low-cone PPP + CXC group ([223.14 +/- 17.87] and [224.14 +/- 17.93] pg/ml vs [231.42 +/- 23.18] and [249.42 +/- 24.97] pg/ml, P < 0.05). Pathological examination revealed morphological damages to the prostate tissue and infiltration of inflammatory cells in the model rats, but no obvious changes in the normal controls. At 15 days of treatment, the rats in the PPP + CXC group showed enlarged prostate glandular cavity, mild proliferation of epithelial cells, no obvious infiltration of inflammatory cells in the interstitial tissue, and a few visible fibrous tissues under the light microscope.</p><p><b>CONCLUSION</b>Compound Xuanju Capsule is efficacious on autoimmune prostatis in rats by reducing inflammatory changes in the prostate tissue and improving the expression of inflammatory factors.</p>

Waist-hip ratio correlates with the levels of reproductive endocrine hormones in abdominally obese males / 中华男科学杂志

<p><b>OBJECTIVE</b>To study the impact of abdominal obesity on the production of male reproductive endocrine hormones.</p><p><b>METHODS</b>This study included 342 male patients at the andrology clinic, aged 19 -47 years and higher than 160 cm. We measured their waistlines, hiplines and waist-hip ratio, detected the levels of serum estradiol (E2), testosterone (T), follicle-stimulating hormone (FSH), luteinizing hormone (LH) and free testosterone (FT) by chemiluminescence and radioimmunoassay, and analyzed the correlation of the waist-hip ratio with the levels of reproductive endocrine hormones. Abdominal obesity was defined as the waist-hip ratio > 0.9.</p><p><b>RESULTS</b>In the 342 male patients, there were 62 cases of abdominal obesity and 280 cases of the normal somatotype (waist-hip ratio < or = 0.9). The waist-hip ratio was negatively correlated with the T level (r = -0.163, P = 0.003) and the T/LH ratio (r = -0.13, P = 0.02). Both the T level and T/LH ratio were significantly reduced in the abdominal obesity patients ([14.51 +/- 4.53] nmol/L and 2.26 +/- 0.36) as compared with the normal somatotype controls ([17.21 +/- 4.23] nmol/L and 4.61 +/- 0.19) (P < 0.05).</p><p><b>CONCLUSION</b>The waist-hip ratio has a significant negative correlation with the T level and T/LH ratio, and the serum T level is significantly lower in men with abdominal obesity than in those of the normal somatotype.</p>

Detection of DPY19L2 gene mutation in a globozoospermia patient / 中华男科学杂志

<p><b>OBJECTIVE</b>Globozoospermia is mostly associated with homozygous deletion of the DPY19L2 gene. This study aimed to investigate the DPY19L2 gene mutation in a globozoospermia patient.</p><p><b>METHODS</b>We observed the sperm histomorphology of a patient with globozoospermia using Wright-Giemsa's staining and transmission electron microscopy, detected the mutation of the DPY19L2 gene by PCR amplification and DNA sequencing, and compared the findings with the sequences issued in the Genbank.</p><p><b>RESULTS</b>Wright-Giemsa's staining showed that all the spermatozoa were round-headed and lacked the acrosome, with the head nucleus darkly, fully and densely stained. Transmission electron microscopy revealed larger round sperm heads, with an even layer of unit membrane surrounding the nuclei and dispersed cytoplasmic vacuoles but no acrosomal structure. No DPY19L2 gene mutation was found by PCR amplification and DNA sequencing.</p><p><b>CONCLUSION</b>No homozygous mutation of the DPY19L2 gene was found in the globozoospermia patient, and therefore some other disease-causing genes might be involved.</p>

Animal models of chronic prostatitis: an update / 中华男科学杂志

Chronic prostatitis is a disease caused by a number of factors characterized by perineal discomfort, pelvic pain, irritative urination symptoms and even sexual dysfunction, and histologically with infiltration of poly-and mononuclear cells in the interstitial connective tissue. Research on this disease has somewhat been hindered, for its pathogenesis and diagnostic criteria are not yet clear. Animal models can help to explain the pathogenesis of chronic prostatitis and chronic pelvic pain syndrome. This article presents an overview on the advantages and limitations of rodent models in the studies of this disease.

Protective effect of L-carnitine combined with sildenafil on the reproductive endocrine function of diabetic male rats / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the protective effect of L-carnitine (LC) combined with sildenafil on the reproductive endocrine function of male rats with diabetes mellitus (DM).</p><p><b>METHODS</b>A total of 40 male SD rats were randomly divided into five groups, group A taken as normal controls, and groups B, C, D and E made into DM models by injection of streptozotocin at 65 mg/kg. Then the rats in groups A and B were treated with normal saline, C with sildenafil at 5 mg per kg per d, D with LC at 300 mg per kg per d, and E with sildenafil at 5 mg per kg per d plus LC at 300 mg per kg per d, all via gastric gavage for 6 weeks, followed by determination of the levels of testosterone (T), follicle-stimulating hormone (FSH) and luteinizing hormone (LH) in the serum of the rats.</p><p><b>RESULTS</b>After 6 weeks of treatment, the T, FSH and LH levels were (25.25 +/- 2.67) nmol/L, (5.78 +/- 0.61) IU/L and (625.21 +/- 43.45) ng/L in group A, (9.63 +/- 1.71) nmol/L, (1.98 +/- 0.42) IU/L and (479.89 +/- 27.62) ng/L in group B, (18.98 +/- 3.07) nmol/L, (5.08 +/- 0.33) IU/L and (586.57 +/- 31.72) ng/L in group C, (16.18 +/- 2.65) nmol/L, (4.63 +/- 0.30) IU/L and (540.78 +/- 25.52) ng/L in group D, and (23.65 +/- 2.66) nmol/L, (5.59 +/- 0.48) IU/L and (621.53 +/- 36. 40) ng/L in group E. The three parameters were significantly lower in B than in the other four groups (P < 0.01), and so were they in C and D than in A and E (P < 0.05), but showed no significant differences either between C and D (P > 0. 05) or between A and E (P > 0.05).</p><p><b>CONCLUSION</b>Six-week medication of either sildenafil or LC alone could increase the levels of T, FSH and LH in the serum of DM rats, but the combination of the two had an even more obvious increasing effect, which indicates a still better protective effect on the reproductive endocrine function of diabetic male rats.</p>

Meiotic analysis of spermatogenic cells in severe oligoasthenoteratozoospermia with chromosome 13 rearrangement / 中华男科学杂志

<p><b>OBJECTIVE</b>To explore the possible mechanisms of spermatogenic arrest in severe oligoasthenoteratozoospermia induced by supernumerary, ring-neocentric 13q12.3 --> 13q22 chromosome and reciprocal deletion.</p><p><b>METHODS</b>We performed a genomic-wide high-density oaCGH analysis for a case of oligoasthenoteratozoospermia with abnormal chromosome 13 to characterize the breakpoints of the chromosome involved or the gene deletion caused by the rearrangement. We also conducted a fluorescence in situ hybridization analysis on the germ cells using probes of 13q14/13qter to observe the pairing condition of homologous chromosome 13.</p><p><b>RESULTS</b>We identified by oaCGH analysis a microdeletion of 4 consecutive probes (A_16_P19757882, A_16_P02744617, A_14_ P108858 and A_16_P02744687 at chr13q12.3: 27979261 --> 28039191) with 59.93 kb between the FLT1 and POMP genes, with no annotated genes in the deleted region. The signals of 13q14 and 13qter were separated from each other in 90% of all the primary spermatocytes examined, indicating the unpairing of homologous chromosome 13 or synapse failure.</p><p><b>CONCLUSION</b>Chromosomal rearrangement-induced spermatogenesis failure is caused by the unpairing of the homologous chromosomes involved in the first meiotic division of germ cells.</p>