scholarly journals Eleven Mutations in Six Genes Causing Abnormal Sperm Morphology: A Case Series

2021 ◽  
Author(s):  
Chongfu Zhong ◽  
Shengjing Liu ◽  
Yong Wang ◽  
Zhuozhuo Shi ◽  
Fengrui Liu ◽  
...  
Keyword(s):  
Male Infertility ◽  
Semen Analysis ◽  
Case Series ◽  
Gene Mutations ◽  
Homozygous Deletion ◽  
Semen Parameters ◽  
Genetic Mutations ◽  
Heterozygous Mutation ◽  
Major Health Problem ◽  
Morphological Abnormalities

Abstract Objective: Infertility has become a major health problem worldwide, approximately 10%–15% of male infertility cases can be attributed to genetic mutations. However, the genetic factors contributing to male infertility remain largely unknown. This study aimed to identify genetic mutations associated with morphological abnormalities in sperm.Methods: In this study, we assessed the semen parameters of 60 patients with sperm morphological abnormalities by semen analysis, and subsequently performed targeted next-generation sequencing (NGS) to identify gene mutations. Results: Of the 60 cases of male infertility, 8 individuals (13%) were identified as carrying genetic mutations. In brief, patient 1 carried two heterozygous mutations of SUN5, including c.1066C>T and c.638delC; Patient 2 and Patient 3 had a 109.73 kb homozygous deletion on chromosome 12 in DPY19L2; patient 4 presented two heterozygous mutations (c.1670_1671delinsTT and c.255_258del) of DPY19L2; patient 5 carried a homozygous variant c.1159+1G>A of CCDC40; patient 6 had a heterozygous mutation c.38_43del in the SEPT12 gene; patient 7 had two heterozygous mutations in DNAH1 (c.10060_10061insATCT and c.12278T>C), and patient 8 presented two heterozygous mutations of CFAP43 (c.3658C>T and c.823del). Conclusions: We identified gene mutations associated with sperm morphological abnormalities in a series of male infertility cases. Eight of sixty individuals were identified as carrying gene mutations. Genetic mutations of SUN5, DPY19L2, CCDC40, SEPT12, DNAH1, and CFAP43 might be responsible for male infertility. Our study expanded the landscape of gene mutations related to sperm morphological abnormalities, which might provide new insights into the genetics underlying male infertility.

The Effects of Combined Oral Antioxidants on Male Infertility

2018 ◽  
Vol 9 (SPL1) ◽  
Author(s):  
Ali Hadi Sabhan
Keyword(s):  
Male Infertility ◽  
Semen Analysis ◽  
Single Agent ◽  
Sperm Concentration ◽  
Membrane Integrity ◽  
Semen Parameters ◽  
Duration Of Treatment ◽  
Male Patients ◽  
Initiation Of Therapy

High reactive oxygen species (ROS) levels was considered as an important factor of male infertility that can result in DNA damage, decrease motility and damage membrane integrity. The role of antioxidants is to maintain the balance between ROS production and their clearance which improve sperm parameters and enhance male fertility. Sixty six male patients with median age of 29 years with a mean period of infertility of 1.5 year that attend the infertility clinic in Al-Diwaniya Maternity and Pediatric Hospital were selected randomly in this study which extend from January 2013 to October 2014 (22 months).The patients were selected to have idiopathic oligo-astheno-teratozoospermia,they underwent a detailed history,general and genital physical examination,Two semen analyses,baseline hormone profile and scrotal Doppler ultrasound examination. All patients were given a combination of oral antioxidants including vitamin E (400 IU. once daily),coenzyme Q10 (75 mg. tablet twice a day),zinc sulphate (15 mg. tablet three time a day) and L-carnitine (1000 mg. twice a day) for three months duration of treatment. Semen analysis was repeated after three months from initiation of therapy and was evaluated for changes in volume,concentration,motility and morphology in comparison with baseline semen analyses and any pregnancy was also documented. Thirteen patients (19%) get pregnancy after a period of 2 to 3 months,other patients show variable changes in their seminal analysis after 3 months. Thirty patients (45%) show increasing in seminal volume of 0.5 to 2 ml., while the sperm concentration was increased in 28 patients (42%). Twenty two patients (33%) show increasing in motility, morphology was increased in 34 patients (51%).From all 66 patients; 6 patients (9 %) get improvement in all four parameters,while 9 patients (14 %) get improvement in only 3 parameters,20 patients (30 %) get improvement in only 2 parameters,23 patients (35 %) get improvement in only one parameter and 8 patients (12 %) had no improvement in any parameter. This study demonstrates a possible role of combined oral antioxidants in the improvement of semen parameters and pregnancy rate for selected infertile men with superiority for the use of combination of antioxidants rather than single agent treatment.

scholarly journals The Treatment of Male Infertility After Allograft Renal Transplantation: A Case Series

2019 ◽  
Vol 12 (1) ◽  
pp. 1-3 ◽  
Author(s):  
Daiji Takamoto ◽  
Takashi Kawahara ◽  
Teppei Takeshima ◽  
Shinnosuke Kuroda ◽  
Taku Mochizuki ◽  
...  
Keyword(s):  
Renal Failure ◽  
Renal Transplantation ◽  
Male Infertility ◽  
Semen Analysis ◽  
Case Series ◽  
Infertility Treatment ◽  
Testicular Sperm Extraction ◽  
Childbearing Age ◽  
Male Patients ◽  
Autosomal Dominant Polycystic Kidney

Background: Renal transplantation is a useful option for allowing female renal failure patients of childbearing age to achieve pregnancy. However, there have been a few reports on the effects of renal transplantation on infertility treatment in male renal failure patients. We herein report two cases in which male patients underwent infertility treatment after renal transplantation. Case Presentation: Case 1: A 51-year-old Asian (Japanese) man underwent transplantation (the donor was his wife) for renal failure due to Autosomal Dominant Polycystic Kidney Disease (ADPKD). At two years after transplantation, he visited the reproduction center in our institute due to infertility. A semen analysis revealed oligoasthenozoospermia. He ultimately failed to achieve pregnancy and gave up on infertility treatment. Case 2: A 47-year-old Asian (Japanese) man underwent renal transplantation (the donor was his sister) due to renal failure caused by diabetes mellitus. At three years after renal transplantation, he visited the reproduction center in our institute for infertility. Due to ejaculation disability and the absence of sperm in the patient’s urine after masturbation, he was diagnosed with anejaculation. Thus, testicular sperm extraction (TESE) was performed. Twenty-three motile spermatozoa were successfully retrieved by microdissection TESE (micro-TESE). ICSI was subsequently performed and a good embryo was transferred. His wife achieved pregnancy and is expected to deliver this October. Conclusion: We report two cases of male infertility treatment after renal transplantation.

Comparison of Open Sub-Inguinal and Microscopic Sub-Inguinal Varicocelectomy for Improvement of Sperm Parameters

2021 ◽  
Vol 15 (10) ◽  
pp. 2882-2885
Author(s):  
Saleem Shahzad ◽  
Muhammad Waqar Shahid ◽  
Muhammad Azeem Mughal ◽  
Ismat Ullah ◽  
Attiq-ur- Rehman Khan
Keyword(s):  
Male Infertility ◽  
Sperm Count ◽  
Semen Analysis ◽  
Semen Parameters ◽  
Surgical Methods ◽  
Group A ◽  
Treatment Objective ◽  
Randomized Controlled Trail ◽  
Group B ◽  
Keywords Male Infertility

Background: Varicoceles along with oligospermia as well as with asthenozoospermia lead to the male infertility. It can weaken the spermatogenesis via many different pathophysiological mechanisms. Many surgical and non-surgical methods are available for its treatment. Objective: To compare microscopic versus open sub-inguinal varicocelectomy in males with varicocele with oligospermia and asthenozoospermia. Study Design: Randomized controlled trail Place and Duration of Study: Department of Urology, Lahore General Hospital, Lahore from 1st May to 30th November 2017. Methodology: One hundred and fifty males with varicocele were recruited and divided in two equal groups. Group A patients underwent microsurgical sub-inguinal varicocelectomy and Group B patients underwent conventional/open sub-inguinal varicocelectomy. Semen analysis was done before surgery and after four months of surgery and 50% improvement in semen parameters were noted. Results: The mean age was 31.69±5.49 years. In group A and group-B ≥50% improvement was observed in 36 (48%) and 21 (28%) respectively. The improvement was significantly higher in group A than group B (p>0.012). Conclusion: The improvement in sperm count and motility was significantly higher in patients treated with microsurgical sub-inguinal varicocelectomy when treated with conventional/open sub-inguinal varicocelectomy. Keywords: Male infertility, Varicocele, Varicocelectomy, Seminal parameters, Microsurgical sub-inguinal, Conventional/open sub-inguinal

scholarly journals Interventional study to find out effect of human chorionic gonadotropin and antioxidants on idiopathic male infertility

2017 ◽  
Vol 6 (2) ◽  
pp. 496
Author(s):  
Namrata V. Padvi ◽  
Pooja P. Singh ◽  
Kishore M. Nadkarni ◽  
Prabhakar M. Singh
Keyword(s):  
Male Infertility ◽  
Chorionic Gonadotropin ◽  
Human Chorionic Gonadotropin ◽  
Medical Management ◽  
Sperm Count ◽  
Semen Analysis ◽  
Semen Parameters ◽  
P Value ◽  
Idiopathic Male Infertility ◽  
Significant Difference

Background: Male contributes about 50% for cases with combined male and female infertility. When the cause is not known, it is term as idiopathic infertility. It affects 25% of men. Many advances have been made in reproductive medicine which provides great opportunities, couples which were considered untreatable now have got chance to have their own babies. Various ART procedures like ICSI have been proven as an efficient therapy in severe male factor infertility. However, the cost per cycle and complications such as multiple gestations cannot be ignored. Medical management of infertility can be specific or empirical depending on etiology. Specific medical management is use when certain etiology is identified. However, in absence of specific etiology use of empirical medical treatment can be attempted in order to improve treatment results. In this study our aim is to evaluate the effect of human chorionic gonadotropin (hCG) and antioxidants on semen parameters in men with idiopathic male infertility.Methods: Thirty men with abnormal semen parameters were included in study. Patients were treated with injection hCG-2000 IU three times a week for three months along with the antioxidants. After 3 months of treatment repeat semen analysis were performed and results were compared with pre-treated seminal parameters.Results: Results showed significant increase in sperm count (p value ≤ 0.001), total motility (p value=<0.001), and progressive forward motility (p value = <0.001), while no significant difference is seen in rest of the parameters.Conclusions: Use of hCG and antioxidants in idiopathic male infertility can significantly improve seminal parameters in idiopathic male infertility.

scholarly journals The Therapeutic Effects of Traditional Chinese Medicine for Poor Semen Quality in Infertile Males

2018 ◽  
Vol 7 (9) ◽  
pp. 239 ◽  
Author(s):  
Shu-Chiu Wang ◽  
Shu-Chen Wang ◽  
Chia-Jung Li ◽  
Ching-Heng Lin ◽  
Hsiao-Lin Huang ◽  
...  
Keyword(s):  
Chinese Medicine ◽  
Traditional Chinese Medicine ◽  
Male Infertility ◽  
Semen Quality ◽  
Sperm Quality ◽  
Semen Analysis ◽  
Quality Analysis ◽  
Semen Parameters ◽  
Therapeutic Effects ◽  
Infertility Patients

Poor sperm quality is one of the main factors of male infertility. Traditional Chinese Medicine (TCM) has been used frequently in clinical practice in many countries to treat a wide array of infertile problems. To further understand the effects of TCM on semen quality, we retrospectively enrolled patients with male infertility and poor semen quality at the Tainan Municipal Hospital in Taiwan between 2013 and 2016. Semen quality analysis in accordance with the WHO criteria is an essential step in the evaluation of male fertility status. Associations between the semen parameters and body mass index, smoking status, alcohol use, duration of infertility, and age were also analyzed. A total of 126 male infertility patients with abnormal semen analysis were included in this study: 50 TCM users and 13 TCM non-users. The basic characteristics of the two groups were not significantly different. TCM users account for 92.5% of the total semen improvement subjects. In conclusion, TCM supplementation may have a beneficial role as improving sperm quality for infertility patients.

IVF and male infertility

1992 ◽  
Vol 1 (2) ◽  
pp. 151-164 ◽  
Author(s):  
Susan M Avery
Keyword(s):  
Male Infertility ◽  
Semen Quality ◽  
Semen Analysis ◽  
World Health ◽  
Semen Parameters ◽  
Infertile Men ◽  
Health Organization ◽  
Sperm Dysfunction

Male infertility, while having a variety of causes, is generally discussed in terms of semen parameters. While the World Health Organization (WHO) have been able io set limits for semen parameters below which a male can be considered subfertile (20 million/ml; >50% motility; >50% morphologically normal forms), it is well documented thatin vivoconceptions have been achieved where semen quality falls well outside these limits, and that infertile men may have normal semen parameters. Macleod and Gold in comparing 1000 fertile men and 1000 infertile men, found that significantly more infertile men had sperm densities below 20 million/ml, but also that 60% of infertile men had sperm densities of 60 million or more. Jouannet and Feneaux have shown that the conception ratein vivoonly apparently falls significantly at sperm concentrations of less than five million/ml. Although the cause of subnormal semen analysis is unknown in the majority of cases, there is no reason to suppose that abnormal semen parameters on their own are the cause of infertility. Rather the problem may be caused by failure of sufficient numbers of sperm traversing the female tract and reaching the oocyte. Unfortunately, lack of defined diagnoses lead to a lack of direct treatment for subnormal semen parameters. The development ofin vitrofertilization (IVF) resulted in a method that could be used to circumvent the problem since it requires relatively low numbers of sperm and these are placed in the immediate vicinity of the oocyte. It should also be pointed out that normal semen parameters do not imply fertility, since these parameters cannot directly identify dysfunction. IVF offers the advantage that sperm-oocyte interractions can be observed, and in cases of fertilization failure, the point at which sperm dysfunction manifests itself may potentially be identified – if not the nature of the dysfunction. Techniques have now been developed that may overcome certain types of dysfunction, using both biochemical and mechanical means.

scholarly journals Semen Analysis and Insight into Male Infertility

2021 ◽  
Vol 9 (A) ◽  
pp. 252-256
Author(s):  
Batool Mutar Mahdi
Keyword(s):  
Retrospective Study ◽  
Male Infertility ◽  
Semen Analysis ◽  
Male Partner ◽  
Sperm Concentration ◽  
World Health ◽  
Semen Parameters ◽  
Infertile Couple ◽  
Male Reproductive Function ◽  
The World

Objectives: Semen analysis is the cornerstone for the valuation of the male partner in the infertile couples. This test has been standardized throughout the world through the World Health Organization (WHO) since the1970s by producing, editing, updating, and disseminating a semen analysis manual and guidelines. A retrospective study to give an insight about  male infertility. Methods: This retrospective study assessed the semen findings of 1000 men evaluated at the  Department of Urology, Al-Kindy Teaching Hospital in Baghdad-Iraq  between January 2016 and May 2019. Semen analysis were done for them. Results: According to WHO standard for semen normality, 1000 samples that were analyzed, normospermia was shown in 835 (83.5%)males (95% CI=0.811-0.857) and 12% had oligospermia and the rest 4.5% was azospermia. The normospermic samples had significantly higher levels regarding the following parameters: count per ml (51.30±1.24) (P= 0.001), volume(3.34±2.31)(P=0.0001), pus cell (8.04±1.02)(P=0.0001), motility (22.81±5.8)(P=0.0001), abnormal motility (22.81±5.8)(P=0.0001) and  normal (V)(P=0.0001)or abnormal morphology (25.86 ±12.4)(P=0.0002) when compared with oligospermia. Conclusions: Semen analysis is the keystone of infertile couple. Semen parameters like sperm concentration, motility and morphology, are indicators for male reproductive function. Sperm concentration is declining and there is a significant association between sperm concentration and sperm parameters.

scholarly journals Impact of Leucocytospermia on Semen Parameters among Sudanese Sub-Fertile Men Port Sudan -2019

2021 ◽  
pp. 1-5
Author(s):  
Dalal Salih Abdel-aziz ◽  
◽  
Mohammed Ahmed Ibrahim Ahmed ◽  
Esam Eldin Osman Elghazali ◽  
Areeg Salih Abdel Aziz Ahmed ◽  
...  
Keyword(s):  
Male Infertility ◽  
Sperm Count ◽  
Semen Analysis ◽  
Semen Parameters ◽  
Cross Sectional ◽  
Normal Morphology ◽  
Long Time ◽  
Microbial Etiology ◽  
Infertility Patients ◽  
The Impact

Background: For a long time, bacterial infection of the male genital tract was thought to be one of the leading causes of male infertility. Various clinical studies have identified Leucocytospermia as a proxy marker for these infections, although other causes of inflammation may also play a role. Objective: The study was conducted at the Dermatology Teaching Hospital in Port Sudan with the aim of determining the impact of leucocytospermia on semen parameters and defining the microbial etiology among infertile males. Methods: Between September 2019 and February 2020, a descriptive, cross-sectional, hospital-based investigation was applied. After meeting the study requirements, 140 patients were randomly selected; patient information was collected via a closed-ended questionnaire after patients provided their authorization. Results: A total of 140 male infertility patients were evaluated. The mean age of respondents was 43.5 + 2.6 years old, 61.4% of the patients had infertility for 1-5 years, 55.7% of the patients had secondary infertility, 32.1% of the patients demonstrated leucocytospermia on their semen analysis. Semen analysis results showed that 37.8 of the leucospermic patients’ sperm count was <15 X 106. In 73.3% of the patients, the motile sperms were < 40%, and normal morphology was less than 4% in 46.7% of the patients. The analysis showed mixed infection by both gram positive and negative bacteria are common (42.2%). Conclusion: According to the findings, there is an association between leucocytospermia and male infertility.

The influence of Robertsonian translocations on semen parameters

2020 ◽  
pp. 87-88
Author(s):  
М.В. Андреева ◽  
М.И. Штаут ◽  
Т.М. Сорокина ◽  
Л.Ф. Курило ◽  
В.Б. Черных
Keyword(s):  
Male Infertility ◽  
Semen Parameters ◽  
Meiotic Arrest ◽  
Robertsonian Translocations ◽  
Prophase I ◽  
Infertile Men ◽  
Fertility Problems ◽  
Spermatogenesis Impairment

Обследованы 19 мужчин с нарушением фертильности, носителей транслокаций rob(13;14) и rob(13;15). Показано, что нарушение репродуктивной функции обусловлено блоком сперматогенеза в профазе I мейоза, приводящего к азооспермии или олигоастенотератозооспермии и мужскому бесплодию. We examined 19 infertile men, carriers of translocations rob (13;14) and rob (13;15). We assume that fertility problems are resulted from spermatogenesis impairment because of meiotic arrest at prophase I stages, that leads to azoospermia or oligoastenoteratozoospermia and male infertility.

scholarly journals Cellular Therapy via Spermatogonial Stem Cells for Treating Impaired Spermatogenesis, Non-Obstructive Azoospermia

Cells ◽  
2021 ◽  
Vol 10 (7) ◽  
pp. 1779
Author(s):  
Nesma E. Abdelaal ◽  
Bereket Molla Tanga ◽  
Mai Abdelgawad ◽  
Sahar Allam ◽  
Mostafa Fathi ◽  
...  
Keyword(s):  
Stem Cells ◽  
Male Infertility ◽  
Cellular Therapy ◽  
Antihypertensive Drugs ◽  
Testicular Biopsy ◽  
Testicular Tissue ◽  
Spermatogonial Stem Cells ◽  
Obstructive Azoospermia ◽  
Promising Alternative ◽  
Major Health Problem

Male infertility is a major health problem affecting about 8–12% of couples worldwide. Spermatogenesis starts in the early fetus and completes after puberty, passing through different stages. Male infertility can result from primary or congenital, acquired, or idiopathic causes. The absence of sperm in semen, or azoospermia, results from non-obstructive causes (pretesticular and testicular), and post-testicular obstructive causes. Several medications such as antihypertensive drugs, antidepressants, chemotherapy, and radiotherapy could lead to impaired spermatogenesis and lead to a non-obstructive azoospermia. Spermatogonial stem cells (SSCs) are the basis for spermatogenesis and fertility in men. SSCs are characterized by their capacity to maintain the self-renewal process and differentiation into spermatozoa throughout the male reproductive life and transmit genetic information to the next generation. SSCs originate from gonocytes in the postnatal testis, which originate from long-lived primordial germ cells during embryonic development. The treatment of infertility in males has a poor prognosis. However, SSCs are viewed as a promising alternative for the regeneration of the impaired or damaged spermatogenesis. SSC transplantation is a promising technique for male infertility treatment and restoration of spermatogenesis in the case of degenerative diseases such as cancer, radiotherapy, and chemotherapy. The process involves isolation of SSCs and cryopreservation from a testicular biopsy before starting cancer treatment, followed by intra-testicular stem cell transplantation. In general, treatment for male infertility, even with SSC transplantation, still has several obstacles. The efficiency of cryopreservation, exclusion of malignant cells contamination in cancer patients, and socio-cultural attitudes remain major challenges to the wider application of SSCs as alternatives. Furthermore, there are limitations in experience and knowledge regarding cryopreservation of SSCs. However, the level of infrastructure or availability of regulatory approval to process and preserve testicular tissue makes them tangible and accurate therapy options for male infertility caused by non-obstructive azoospermia, though in their infancy, at least to date.

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