MBOAT1 homozygous missense variant causes nonobstructive azoospermia / 亚洲男科学杂志(英文版)

Nonobstructive azoospermia (NOA) is a common cause of infertility and is defined as the complete absence of sperm in ejaculation due to defective spermatogenesis. The aim of this study was to identify the genetic etiology of NOA in an infertile male from a Chinese consanguineous family. A homozygous missense variant of the membrane-bound O-acyltransferase domain-containing 1 (MBOAT1) gene (c.770C>T, p.Thr257Met) was found by whole-exome sequencing (WES). Bioinformatic analysis also showed that this variant was a pathogenic variant and that the amino acid residue in MBOAT1 was highly conserved in mammals. Quantitative polymerase chain reaction (Q-PCR) analysis showed that the mRNA level of MBOAT1 in the patient was 22.0% lower than that in his father. Furthermore, we screened variants of MBOAT1 in a broader population and found an additional homozygous variant of the MBOAT1 gene in 123 infertile men. Our data identified homozygous variants of the MBOAT1 gene associated with male infertility. This study will provide new insights for researchers to understand the molecular mechanisms of male infertility and will help clinicians make accurate diagnoses.

Correlation of 5-hydroxytryptamine transporter gene-linked polymorphic region with lifelong premature ejaculation: Progress in studies / 中华男科学杂志

Premature ejaculation (PE), as one of the most common male sexual dysfunctions, has a serious negative impact on the sexual satisfaction of the patients and their sexual partners. Lifelong PE is a most common type and a current focus of research as well. The etiology and pathogenesis of this disease are not yet clear and genetic factors are considered to be closely related to lifelong PE. Studies show that the 5-hydroxytryptamine transporter (5-HTT) gene plays an important role in the development and progression of lifelong premature ejaculation and the 5-HTT-linked polymorphic region (5-HTTLPR) has attracted much attention in recent years. This article presents an overview on the correlation between 5-HTTLPR and lifelong PE.

Nanos2 in the male reproductive system: Progress in studies / 中华男科学杂志

Nanos2, a member of the Nanos2 gene family, is a specific gene in male germ cells and encodes an evolutionarily conserved RNA binding protein expressed in male primordial germ cells (PGCs) during the embryonic period as well as in the spermatogonial stem cells (SSCs) of the testis. In the embryonic period, Nanos2 promotes the development of male PGCs and inhibits them from meiosis. In the process of spermatogenesis, Nanos2 suppresses the differentiation of SSCs in the testis and maintains the stability of the SSC pool. The knockout of Nanos2 may cause the disappearance of germ cells and sterility in male mice while its overexpression in the testis may lead to accumulation of SSCs in seminiferous tubules. Besides, Nanos2 is involved in the degradation of specific RNAs and possibly associated with some diseases of the male reproductive system. This review focuses on the recent progress in the studies of Nanos2 in the male reproductive system.

TDP-43 in male infertility: Progress in studies / 中华男科学杂志

Approximately 10－15% of couples worldwide fail to achieve a pregnancy within a year after marriage. Male factors account for about 50% of the causes of infertility and the causes of male infertility are complicated and varied, and many of them are not yet clear. In recent years, the role of RNA-binding proteins in male infertility has attracted much attention. The transactive response DNA-binding protein of 43 kDa (TDP-43) is involved in gene regulation in the testis, and its abnormal expression may affect male reproduction and lead to male infertility. The distribution and expression of TDP-43 vary in normal and abnormal spermatozoa and may be a marker of male infertility. This article presents an overview on the structure of TDP-43 and its role in male infertility.

The piRNA pathway and spermatogenesis: Advances in studies / 中华男科学杂志

Piwi-interacting RNAs (piRNAs) are a distinct class of small non-coding RNAs specifically expressed in the germline of many species. Studies show that the piRNA pathway influences spermatogenesis by translation regulation, germline stem cell maintenance, RNA degradation and gene defense in addition to inhibition of transposable elements. This review presents an overview of the piRNA pathway focusing on piRNA, PIWI protein and other related proteins and outlines the latest advances in the studies of the piRNA pathway in spermatogenesis.

Correlation between premature ejaculation diagnostic tool and International Index of Erectile Function-15 in different types of premature ejaculation / 中华男科学杂志

<p><b>Objective</b>To investigate the correlation between the premature ejaculation diagnostic tool (PEDT) and International Index of Erectile Function-15 (IIEF-15) in different types of premature ejaculation (PE).</p><p><b>METHODS</b>We performed a cross-section survey among 352 PE patients received in the andrology clinic from December 2014 to December 2015 and 104 healthy men from the health examination center using basic demographic information (as on age, height, weight, education status, occupation, income, etc.), PEDT results, and IIEF-15 scores of the subjects.</p><p><b>RESULTS</b>The PE patients had remarkably higher PEDT and lower IIEF-15 scores than the healthy men (P<0.01). The PEDT score of the PE patients was negatively correlated with their total IIEF-15 score as well as with the scores in the domains of erectile function, sexual intercourse satisfaction, and overall satisfaction after adjusted for age (P<0.01). The patients with acquired PE (APE) showed a lower IIEF-15 score than those with lifelong PE (LPE) (P<0.01). The PEDT score of the APE patients was correlated negatively with the total IIEF-15 score (r=－0.391, P<0.01) and the scores in the domains of erectile function (r=－0.362, P<0.01) and overall satisfaction (r=－0.621, P<0.01), but not correlated with intercourse satisfaction, sexual orgasm, or sexual desire. The PEDT score of the LPE group was correlated negatively with intercourse satisfaction (r=－0.286, P<0.05) but not correlated with either the total IIEF-15 score or the scores in the domains of erectile function, overall satisfaction, sexual orgasm, or sexual desire.</p><p><b>CONCLUSIONS</b>PE patients have a higher PEDT score and a lower IIEF-15 score than normal males. The PEDT score of APE patients is significantly correlated with the total IIEF-15 score, while that of LPE patients is correlated not with the total IIEF-15 score but with intercourse satisfaction.</p>

RNA-binding protein PTB in spermatogenesis: Progress in studies / 中华男科学杂志

RNA binding proteins (RBPs) regulate the function of cells by interacting with nascent transcripts and therefore are receiving increasing attention from researchers for their roles in tissue development and homeostasis. The polypyrimidine tract binding (PTB) protein family of RBPs are important posttranscriptional regulators of gene expression. Further investigations on the post-transcriptional regulation mechanisms and isoforms of PTB proteins in the spermatogenesis show that PTB protein 1 (Ptbp1) is a predominant isoform in mitotic cells (spermatogonia), while Ptbp2 predominates in meiotic spermatocytes and postmeiotic spermatids and binds to the specific 3' untranslated region (3' UTR) of the phosphoglycerate kinase 2 (Pgk-2) mRNA, which helps to stabilize Pgk-2 mRNA in male mouse germ cells. In case of Ptbp2 inactivation in the testis, the differentiation of germ cells arrests in the stage of round spermatids, with proliferation of multinucleated cells in the seminiferous tubule, increased apoptosis of spermatocytes, atrophy of seminiferous tubules, and lack of elongating spermatids, which consequently affects male fertility. This article presents an overview on the structure of the PTB protein and its role in regulating mammalian spermatogenesis.

Premature ejaculation and female partners' psychological factors / 中华男科学杂志

Premature ejaculation (PE) is a most common sexual dysfunction in males, which variably affects men's reproductive and mental health. Recent studies show that PE affects not only the patients themselves, but also the psychological state of their spouses, which, in turn, may alleviate or aggravate the patients'PE symptoms by different reactions. However, the correlation between PE and female's psychological factors is mostly ignored by the patients and even clinicians in the studies, diagnosis and treatment of PE.

Impact of BKCa channel in prostate smooth muscle cells on the membrane potential in rats with chronic abacterial prostatitis / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the impact of the BKCa channel in prostate smooth muscle cells (PSMCs) on the membrane potential in SD rats with chronic abacterial prostatitis (CAP).</p><p><b>METHODS</b>CAP models were established in 20 SD rats by castration and injection of 17 beta-estrogen, and another 20 were taken as normal controls. PSMCs were cultured and purified in vitro, and treated with DiBAC4, followed by quantitative observations on the dynamic changes of the cell membrane potential by laser confocal microscopy.</p><p><b>RESULTS</b>The extracellular calcium ion concentration ([Ca2+]o) was increased and the BKCa channel was activated, which induced the hyperpolarization of the PSMC membrane in both the CAP models and normal control rats. This effect was weakened with Iberiotoxin (IbTX), a specific blocker of the BKCa channel, but the amplitude of the hyperpolarization was obviously lower in the CAP than in the control group. The DiBAC4 fluorescence intensity induced by hyperpolarization was 18.78 +/- 2.92 in the former and 38.85 +/- 7.10 in the latter (P < 0.05), while that induced by IbTX was 1.61 +/- 0.46 and 6.12 +/- 1.32 (P < 0.05), respectively.</p><p><b>CONCLUSION</b>Significant decrease of BKCa-mediated hyperpolarization in the CAP model can reduce its abilities of regulating the membrane potential and suppressing the excessive contraction of PSMCs, which may result in pelvic pain syndrome and lower urinary tract symptoms.</p>

Menopause-like symptoms among old and middle-aged males in Hefei area / 中华男科学杂志

<p><b>OBJECTIVE</b>To access the prevalence of menopause-like symptoms, and their related factors in old and middle-aged males in the area of Hefei.</p><p><b>METHODS</b>This study included 1 026 males aged over 45 years that came to the clinic for health examination. We collected their personal data, and evaluated their general health status and the results of the questionnaire investigation using the Aging Males' Symptoms (AMS) scale.</p><p><b>RESULTS</b>The total incidence of menopause-like symptoms was 64.7% among the old and middle-aged males in Hefei area, of which 58.1% were mild, 30.9% moderate and 11.0% severe. The average AMS score was 31.2 +/- 6.8, in which the scores on psychological, physical and sexual function symptoms were 8.3 +/- 2.1, 12.4 +/- 4.8 and 9.3 +/- 4.5, respectively. Sexual function symptoms were increased significantly with the increase of age (P < 0.05), but psychological and physical symptoms showed no obvious correlation with age (P > 0.05). The main risk factors of menopause-like symptoms included age, smoking, diabetes, cardiovascular diseases, and obesity, but physical exercise was an important protective factor against them.</p><p><b>CONCLUSION</b>With the increase of age, the prevalence of male menopause-like symptoms rises and sexual function declines gradually, but psychological and physical scores are not affected significantly. Age, general health status and lifestyle are closely associated with the prevalence of menopause-like symptoms among old and middle-aged males.</p>

Intracellular calcium ion concentration in the prostate smooth muscle cells of chronic abacterial prostatitis rat models and normal controls / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the difference in intracellular calcium ion [Ca2+]i concentration in prostate smooth muscle cells (PSMCs) between SD rat models of chronic abacterial prostatitis (CAP) and normal controls, and to evaluate the role of [Ca2+]i concentration in CAP.</p><p><b>METHODS</b>We established CAP models in SD rats using purified prostate protein and Freund's complete adjuvant, cultured in vitro and then purified the PSMCs of both the CAP models and normal controls. Continuous dynamic scanning was performed under the laser confocal scanning microscope after incubation of the cells with FLUO-3AM.</p><p><b>RESULTS</b>The fluorescence intensities of [Ca2+]i in the PSMCs were 80.39 +/- 9.00 and 27.95 +/- 10.04 in the CAP models and normal controls, respectively, with statistically significant differences between the two groups (P < 0.01).</p><p><b>CONCLUSION</b>The concentration of [Ca2+]i increased in the PSMCs of the CAP rat models, which might enhance the constriction of PSMCs and subsequently increase the sensibility to pain and cause lower abdominal pain.</p>

Quantitative expression of voltage-dependent calcium channels in prostate smooth muscle cells of rats with estradiol-induced chronic nonbacterial prostatitis / 中华男科学杂志

<p><b>OBJECTIVE</b>To construct a rat model of chronic nonbacterial prostatitis (CP) and investigate the difference in the quantitative expression of voltage-dependent calcium channels of prostate smooth muscle cells (PSMCs) between the models and controls.</p><p><b>METHODS</b>We established a CP rat model by estrogen induction, cultured and purified the PSMCs in vitro, and extracted total RNA by Trizol. Then we measured the mRNA expression of the cal subunit in the calcium channel subtypes by reverse transcription and SYBR Green I real time RT-PCR, and compared it with that of the controls.</p><p><b>RESULTS</b>The expressions of the L-, T- and P/Q-type calcium channels were found in both the CP and control groups, and that of the CaV1.2 L-type calcium channel was significantly increased in the former as compared with the latter (0.048 +/- 0.024 versus 0.031 +/- 0.015, t = 2.846, P = 0.007), but there were no statistically significant differences in the T- and P/Q-type calcium channels between the two groups.</p><p><b>CONCLUSION</b>The number of CaV1.2 L-type calcium channels of PSMCs and calcium influx were increased in CP patients, which may be involved in the mechanism of CP.</p>

Treatment of chronic prostatitis in Chinese men / 亚洲男科学杂志(英文版)

The aim of this study is to assess the status of treatment of chronic prostatitis (CP) in Chinese men. A population-based cross-sectional survey was performed, in which 15 000 men aged between 15 and 60 years were randomly selected to receive a questionnaire designed to assess National Institutes of Health Chronic Prostatitis Symptoms Index (NIH-CPSI) status, therapeutic efficacy and 28 other items. A total of 12 743 men (84.95%) completed the questionnaire, of whom 1 071 (8.4%) were identified as having prostatitis-like symptoms and 517 (4.5%) were diagnosed with CP according to NIH-CPSI criteria and prostatitis-like symptomatology. Of the CP patients, 372 (65%) underwent long-term routine treatment 12 times per year. Additionally, 217 (72.8%) patients received antibiotic therapy and 215 (79.3%) men showed therapeutic effects. The treatment cost USD 1 151 (8 059 yuan) per person per year on average. Most CP patients received routine treatment, in most cases with antibiotics. Treatment was costly and most CP patients were not satisfied with its effectiveness. Antibacterial treatment might have been effective primarily in patients with bacterial disease.

Transient receptor potential ion channels and prostatic diseases / 中华男科学杂志

Transient receptor potential (TRP) ion channels are widely distributed in different kinds of cells. TRP expresses highly in the prostatic cancer epithelia at different levels, but whether it expresses in chronic prostatitis epithelia or not remains poorly understood. Investigating the roles of TRP ion channels in the pathogenesis of prostatic diseases could afford us a new approach to their diagnosis and therapy.

Effects of growth hormone supplementation on erectile function and expression of nNOS in aging rats / 中华男科学杂志

<p><b>OBJECTIVE</b>To explore the effects of growth hormone( GH) supplementation on erectile function and expression of nNOS in the intracavernosal nerves in aging rats.</p><p><b>METHODS</b>Twenty male Sprague-Dawley rats aged 18 months were randomly divided into Groups A and B, and ten 2-month-old male Sprague-Dawley rats included in Group C. 1 U/(kg x d) GH was given to Group A, and the same volume of saline to Groups B and C. After 8 weeks of treatment, evaluation was made of the erections induced by apomorphine (APO), maximal intracavernous pressure (ICP) induced by intracavernous papaverine injection and expression of nNOS in the intracavernosal nerves by streptavidin-peroxidase immunohistochemical techniques.</p><p><b>RESULTS</b>After 8 weeks of treatment, the erection frequency, maximal ICP and expression of nNOS in the intracavernosal nerves of the rats in Groups A and C were significantly higher than those in Group B (P < 0.05 or P < 0.01).</p><p><b>CONCLUSION</b>Growth hormone supplementation can improve the erectile function of aging rats, which may be attributed to the increase in the expression of nNOS in the intracavernosal nerves.</p>

Comparison between sildenafil plus sertraline and sertraline alone in the treatment of premature ejaculation / 中华男科学杂志

<p><b>OBJECTIVE</b>To compare the efficacy and safety of sildenafil plus sertraline with those of sertraline alone in the treatment of premature ejaculation (PE).</p><p><b>METHODS</b>Seventy-two patients with PE but without any obvious organic cause were enrolled in this study. They were randomly divided into Groups A and B of equal number. Group A received 50 mg sertraline daily 4 to 6 hours before planned sexual activity for 12 weeks, and Group B were given 50 mg sertraline daily plus 50 mg sildenafil as needed, 1 hour before planned sexual activity, for 12 weeks. Before and after the treatment, the mean intravaginal ejaculation latency time, the intercourse satisfaction, the mean number of coituses per week and the drug-related side effects were evaluated.</p><p><b>RESULTS</b>The mean intravaginal ejaculatory latency time was (0.59 +/- 0.12), (3.9 +/- 0.15) minutes (P < 0.001) at baseline and post-treatment in Group A, and (0.56 +/- 0.11), (5.6 +/- 0.12) minutes (P < 0.001) in Group B, improved in both of the 2 groups, but more significantly in Group B (P < 0.05). Before and after the treatment, the mean intercourse satisfaction domain values of the IIEF were (8.9 +/- 1.2), (10.8 +/- 1.1) (P < 0.05) and (8.8 +/- 1.1), (13.8 +/- 1.3) (P < 0.001) in Groups A and B, respectively, significantly greater in Group B than in Group A (P < 0.05) after the treatment; the mean numbers of coituses per week in Groups A and B were (0.9 +/- 0.2), (1.9 +/- 0.3) (P < 0.05) and (1.0 +/- 0.2), (2.7 +/- 0.2) (P <0.001) respectively, significantly larger in Group B (P<0.05) after the treatment. As for the side effects, there was a higher rate of headaches (P < 0.01) and flushing episodes (P < 0.001) in Group B than in Group A.</p><p><b>CONCLUSION</b>Sertraline combined with sildenafil can produce significantly better results than sertraline alone in patients with premature ejaculation. However, the combined treatment is associated with a slight increase in the drug-related side effects.</p>