Asian Journal of Andrology最新文献

Clinical analysis of secondary penile cancer: a case series at a tertiary referral center in China. 继发性阴茎癌的临床分析：中国一家三级转诊中心的病例系列。

IF 3 2区医学

Asian Journal of Andrology Pub Date : 2024-03-01 Epub Date: 2023-06-09 DOI: 10.4103/aja202319

Xiao-Yu Li, Chun-Ru Xu, Xing Ji, Zhen-Peng Zhu, Zhen-Ke Guo, Tian-Yu Cai, Jian Lin

引用次数: 0

Testicular prostheses - impact on quality of life and sexual function. 睾丸假体--对生活质量和性功能的影响。

IF 3 2区医学

Asian Journal of Andrology Pub Date : 2024-03-01 Epub Date: 2023-07-11 DOI: 10.4103/aja202325

Ana Sofia Araújo, Sara Anacleto, Ricardo Rodrigues, Catarina Tinoco, Andreia Cardoso, Carlos Oliveira, Ricardo Leão

{"title":"Testicular prostheses - impact on quality of life and sexual function.","authors":"Ana Sofia Araújo, Sara Anacleto, Ricardo Rodrigues, Catarina Tinoco, Andreia Cardoso, Carlos Oliveira, Ricardo Leão","doi":"10.4103/aja202325","DOIUrl":"10.4103/aja202325","url":null,"abstract":"Orchiectomy is the recommended treatment for many testicular conditions. However, testicular prosthesis placement is not always performed for different reasons. In this study, we aimed to evaluate patients' opinions and the impact on sexual function and quality of life. This retrospective observational single-center study included patients who underwent orchiectomy between January 2014 and December 2020 at the Department of Urology, Braga's Hospital (Braga, Portugal), where testicular implants were always available and the decision to undergo the procedure was made fully independent of cost. Patients completed four questionnaires that assessed demographic data, satisfaction, self-esteem, and sexual function. Of the 96 patients who underwent orchidectomy, 59 replied to the questionnaires, and of these patients, 86.4% decided to undergo silicone-based testicular prostheses implantation. The remaining 13.6% refused the implant based on concerns about complications (37.5%), because they felt that it was unnecessary (37.5%), or because it was not offered by the doctor (25.0%). Overall, 96.1% of these patients were satisfied with the implant; however, 25.5% classified it as \"too firm\". No statistically significant differences were found in sexual function (all P > 0.05). However, it can be observed that there are more patients with prostheses presenting normal sexual activity compared to patients without prostheses (74.0% vs 50.0%), and none of them reported severe erectile dysfunction (0 vs 16.7%). Regarding self-esteem, both patients with and without prostheses present very similar average scores with no statistically significant differences. The present study highlights the highest level of satisfaction among patients who received testicular prostheses. Testicular prostheses implantation is a safe procedure that does not hamper sexual function after orchiectomy.","PeriodicalId":8483,"journal":{"name":"Asian Journal of Andrology","volume":" ","pages":"160-164"},"PeriodicalIF":3.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10919427/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10281323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations 中国先天性性腺功能减退症患者的临床表现和精子发生结果

IF 2.9 2区医学

Asian Journal of Andrology Pub Date : 2024-01-09 DOI: 10.4103/aja202366

Yu-Fan Yang, Hai-Lu Ma, Xi Wang, M. Nie, Jiang-Feng Mao, Xueyan Wu

{"title":"Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations","authors":"Yu-Fan Yang, Hai-Lu Ma, Xi Wang, M. Nie, Jiang-Feng Mao, Xueyan Wu","doi":"10.4103/aja202366","DOIUrl":"https://doi.org/10.4103/aja202366","url":null,"abstract":"\u0000 Fibroblast growth factor receptor 1 (FGFR1) mutations are associated with congenital hypogonadotropic hypogonadism (CHH) through inheritance or spontaneous occurrence. We detected FGFR1 mutations in a Chinese cohort of 210 CHH patients at Peking Union Medical College Hospital (Beijing, China) using next-generation and Sanger sequencing. We assessed missense variant pathogenicity using six bioinformatics tools and compared clinical features and treatment outcomes between inherited and de novo mutation groups. Among 19 patients with FGFR1 mutations, three were recurrent, and 16 were novel variants. Sixteen of the novel mutations were likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines, with the prevalent P366L variant. The majority of FGFR1 mutations was inherited (57.9%), with frameshift mutations exclusive to the de novo mutation group. The inherited mutation group had a lower incidence of cryptorchidism, short stature, and skeletal deformities. In the inherited mutation group, luteinizing hormone (LH) levels were 0.5 IU l−1, follicle-stimulating hormone (FSH) levels were 1.0 IU l−1, and testosterone levels were 1.3 nmol l−1. In contrast, the de novo group had LH levels of 0.2 IU l−1, FSH levels of 0.5 IU l−1, and testosterone levels of 0.9 nmol l−1, indicating milder hypothalamus–pituitary–gonadal axis (HPGA) functional deficiency in the inherited group. The inherited mutation group showed a tendency toward higher spermatogenesis rates. In conclusion, this study underscores the predominance of inherited FGFR1 mutations and their association with milder HPGA dysfunction compared to de novo mutations, contributing to our understanding of the genetic and clinical aspects of FGFR1 mutations.","PeriodicalId":8483,"journal":{"name":"Asian Journal of Andrology","volume":"45 47","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139442289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Grafts in Peyronie’s surgery without the use of prostheses: a systematic review and meta-analysis 佩罗尼氏手术中不使用假体的移植物：系统回顾和荟萃分析

IF 2.9 2区医学

Asian Journal of Andrology Pub Date : 2024-01-09 DOI: 10.4103/aja202358

A. Natsos, V. Tatanis, S. Kontogiannis, Sharon Waisbrod, K. Gkeka, Mohamed Obaidad, A. Peteinaris, K. Pagonis, Costas Papadopoulos, P. Kallidonis, E. Liatsikos, Petros Drettas

{"title":"Grafts in Peyronie’s surgery without the use of prostheses: a systematic review and meta-analysis","authors":"A. Natsos, V. Tatanis, S. Kontogiannis, Sharon Waisbrod, K. Gkeka, Mohamed Obaidad, A. Peteinaris, K. Pagonis, Costas Papadopoulos, P. Kallidonis, E. Liatsikos, Petros Drettas","doi":"10.4103/aja202358","DOIUrl":"https://doi.org/10.4103/aja202358","url":null,"abstract":"\u0000 Peyronie’s disease (PD) is characterized by abnormal penile curvature, and various surgical methods have been developed using different graft materials. However, there is currently no universal agreement on which type of graft is the best. The objective of this review was to evaluate the available literature and identify the most effective graft material for penile curvature correction in PD. A literature search was conducted using electronic databases, including PubMed, Scopus, and the Cochrane Library. The patients, intervention, comparison, and outcome (PICO) approach was used to define the eligibility of studies. Two authors independently selected studies, evaluated them, and extracted data. Random-effect models using the DerSimonian–Laird method were used. Most studies were single-arm studies and had a high risk of bias. Buccal mucosa grafts (BMG) were found to result in the highest penile straightening rates and were associated with the least de novo erectile dysfunction. TachoSil grafts demonstrated a high success rate in straightening despite a higher mean preoperative curvature, while Tutoplast grafts had a higher incidence of postoperative erectile dysfunction. BMG had the highest percentage of postoperative penile straightening. Overall, the TachoSil graft showed the best performance when preoperative curvature is taken into account. Based on the available literature, BMG appear to be the most effective for penile curvature correction in PD, but this is offset by the requirement for low preoperative curvature. The TachoSil graft shows the best overall performance when preoperative curvature is considered. Comparative randomized clinical trials are still needed to determine graft superiority.","PeriodicalId":8483,"journal":{"name":"Asian Journal of Andrology","volume":"31 18","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139442934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes. DNAH6的新型变体会导致与精子鞭毛多种形态异常（MMAF）和ICSI结果相关的男性不育症。

IF 3 2区医学

Asian Journal of Andrology Pub Date : 2024-01-01 Epub Date: 2023-08-11 DOI: 10.4103/aja202328

Zhong-Mei Shao, Yu-Tong Zhu, Meng Gu, Sen-Chao Guo, Hui Yu, Kuo-Kuo Li, Dong-Dong Tang, Yu-Ping Xu, Ming-Rong Lv

{"title":"Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes.","authors":"Zhong-Mei Shao, Yu-Tong Zhu, Meng Gu, Sen-Chao Guo, Hui Yu, Kuo-Kuo Li, Dong-Dong Tang, Yu-Ping Xu, Ming-Rong Lv","doi":"10.4103/aja202328","DOIUrl":"10.4103/aja202328","url":null,"abstract":"Variations in the dynein axonemal heavy chain gene, dynein axonemal heavy chain 6 ( DNAH6 ), lead to multiple morphological abnormalities of the flagella. Recent studies have reported that these deficiencies may result in sperm head deformation. However, whether DNAH6 is also involved in human acrosome biogenesis remains unknown. The purpose of this study was to investigate DNAH6 gene variants and their potential functions in the formation of defective sperm heads and flagella. Whole-exome sequencing was performed on a cohort of 375 patients with asthenoteratozoospermia from the First Affiliated Hospital of Anhui Medical University (Hefei, China). Hematoxylin and eosin staining, scanning electron microscopy, and transmission electron microscopy were performed to analyze the sperm morphology and ultrastructure. Immunofluorescence staining and Western blot analysis were conducted to examine the effects of genetic variants. We identified three novel deleterious variants in DNAH6 among three unrelated families. The absence of inner dynein arms and radial spokes was observed in the sperm of patients with DNAH6 variants. Additionally, deficiencies in the acrosome, abnormal chromatin compaction, and vacuole-containing sperm heads were observed in these patients with DNAH6 variants. The decreased levels of the component proteins in these defective structures were further confirmed in sperm from patients with DNAH6 variants using Western blot. After intracytoplasmic sperm injection (ICSI) treatment, the partner of one patient with a DNAH6 variant achieved successful pregnancy. Overall, novel variants in DNAH6 genes that contribute to defects in the sperm head and flagella were identified, and the findings indicated ICSI as an effective clinical treatment for such patients.","PeriodicalId":8483,"journal":{"name":"Asian Journal of Andrology","volume":" ","pages":"91-98"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846836/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10375183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Comparison of cytokine levels in prostatic secretion between the IIIa and IIIb subtypes of prostatitis. IIIa 和 IIIb 亚型前列腺炎前列腺分泌物中细胞因子水平的比较。

IF 3 2区医学

Asian Journal of Andrology Pub Date : 2024-01-01 Epub Date: 2023-08-22 DOI: 10.4103/aja202336

Cheng-Lin Han, Yu-Xuan Deng, Peng Hu, Bin-Tao Hu, Tao Wang, Ji-Hong Liu, Ming-Chao Li

{"title":"Comparison of cytokine levels in prostatic secretion between the IIIa and IIIb subtypes of prostatitis.","authors":"Cheng-Lin Han, Yu-Xuan Deng, Peng Hu, Bin-Tao Hu, Tao Wang, Ji-Hong Liu, Ming-Chao Li","doi":"10.4103/aja202336","DOIUrl":"10.4103/aja202336","url":null,"abstract":"Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS), also known as National Institutes of Health (NIH) type III prostatitis, is a common disorder with an unclear etiology and no known curative treatments. Based on the presence or absence of leukocytes in expressed prostatic secretion (EPS), CP/CPPS is classified further into IIIa (inflammatory) and IIIb (noninflammatory) subtypes. However, the severity of symptoms is not entirely consistent with the white blood cell (WBC) count. Following the preliminary finding of a link between inflammatory cytokines and CP/CPPS, we performed this clinical study with the aim of identifying cytokines that are differentially expressed according to whether the prostatitis subtype is IIIa or IIIb. We found that granulocyte colony-stimulating factor (G-CSF), interleukin-18 (IL-18), and monocyte chemoattractant protein-1 (MCP-1) levels were significantly elevated and interferon-inducible protein-10 (IP-10) and platelet-derived growth factor-BB (PDGF-BB) levels were downregulated in the EPS of patients with type IIIa prostatitis. In a word, it is a meaningful study in which we investigate the levels of various cytokines in EPS according to whether prostatitis is the IIIa or IIIb subtype. The combination of G-CSF, IL-18, MCP-1, IP-10, and PDGF-BB expression levels could form a basis for classification, diagnosis, and therapeutic targets in clinical CP/CPPS.","PeriodicalId":8483,"journal":{"name":"Asian Journal of Andrology","volume":" ","pages":"77-84"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846828/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10202859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sperm acrosin activity may be a useful factor in choosing between ICSI and IVF for infertile male patients. 精子顶体酶活性可能是男性不育患者在选择卵胞浆内单精子显微注射（ICSI）还是体外受精（IVF）时的一个有用因素。

IF 3 2区医学

Asian Journal of Andrology Pub Date : 2024-01-01 Epub Date: 2023-08-22 DOI: 10.4103/aja202337

Ye-Na Hu, Liang Hu, Xin-Yu Yin, Huan Zhang, Yang-Qin Peng, Gang Liu, Ge Lin, Wei-Na Li

{"title":"Sperm acrosin activity may be a useful factor in choosing between ICSI and IVF for infertile male patients.","authors":"Ye-Na Hu, Liang Hu, Xin-Yu Yin, Huan Zhang, Yang-Qin Peng, Gang Liu, Ge Lin, Wei-Na Li","doi":"10.4103/aja202337","DOIUrl":"10.4103/aja202337","url":null,"abstract":"The clinical applications of acrosin activity are limited. We analyzed 61 578 male partners in infertile couples who visited the outpatient department of the Reproductive and Genetic Hospital of CITIC-Xiangya (Changsha, China) between August 2014 and December 2019 to determine the reference ranges and thresholds for acrosin activity in infertile Chinese men; to determine whether correlations exist between acrosin activity and age, sperm concentration, sperm morphology, or sperm motility; and to evaluate whether acrosin activity could serve as an effective prognostic indicator for choosing between in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) in the clinic. The cut-off value for the normal reference range of acrosin activity for male partners in infertile couples was 24.78 µIU per 10 6 sperm. There was no significant association between acrosin activity and age, sperm concentration, semen volume, total sperm count, progressive motility, or total motile spermatozoa. A weak positive correlation was found between acrosin activity and normal sperm morphology. There was a statistically significant difference in abnormal acrosome morphology between the group with high acrosin activity (>24.78 µIU per 10 6 sperm) and the group with low acrosin activity (<24.78 µIU per 10 6 sperm). The group with a low IVF fertilization rate had a high index of abnormal acrosomal morphology at 21.2%, while the group with a high IVF fertilization rate had a low index of 0.2%. At an acrosin activity of <24.78 µIU per 10 6 sperm, in one cycle of the same patient, the fertilization rate, normal fertilization rate, and good-quality embryo rate for ICSI were significantly higher than those for IVF. Therefore, the most promising application of acrosin activity could be in the selection of ICSI over IVF for infertile male patients with complete fertilization failure or a low fertilization rate.","PeriodicalId":8483,"journal":{"name":"Asian Journal of Andrology","volume":" ","pages":"85-90"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10554837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Nitro-oleic acid ameliorates erectile dysfunction in a streptozotocin-induced rat model of diabetes by inhibiting oxidative stress and apoptosis and activating the NO/cGMP pathway. 硝基油酸通过抑制氧化应激和细胞凋亡以及激活 NO/cGMP 通路，改善链脲佐菌素诱导的糖尿病大鼠模型中的勃起功能障碍。

IF 3 2区医学

Asian Journal of Andrology Pub Date : 2024-01-01 Epub Date: 2023-08-08 DOI: 10.4103/aja202331

Chang-Bo Zhao, Wei-Bo Chen, Wen-Zhen Wang, Fang-Xin Gong, Cui-Qin Fan, Ye Li, Tian Lan, Wen-Jing Wang, Ming-Zhen Yuan

{"title":"Nitro-oleic acid ameliorates erectile dysfunction in a streptozotocin-induced rat model of diabetes by inhibiting oxidative stress and apoptosis and activating the NO/cGMP pathway.","authors":"Chang-Bo Zhao, Wei-Bo Chen, Wen-Zhen Wang, Fang-Xin Gong, Cui-Qin Fan, Ye Li, Tian Lan, Wen-Jing Wang, Ming-Zhen Yuan","doi":"10.4103/aja202331","DOIUrl":"10.4103/aja202331","url":null,"abstract":"The major vascular complications associated with diabetes make the management of diabetic mellitus erectile dysfunction (DMED) a challenging endeavor. Notable factors contributing to DMED include oxidative stress, nitric oxide (NO)/cyclic guanosine monophosphate (cGMP) pathway activation, and apoptosis, while nitro-oleic acid (NO 2 -OA) has been shown to be beneficial in treating these aspects of this condition. We, herein, investigated the effects and possible mechanisms of NO 2 -OA on erectile function as assessed in a streptozotocin-induced rat model of diabetes. Our results revealed that the erectile function of DMED rats was significantly impaired compared with that of the control group. However, in response to 4 weeks of NO 2 -OA treatment, there was an improvement in erectile function. The expression of oxidative stress-related indicators was significantly increased and the NO/cGMP pathway was impaired in the DMED group. The expression of proapoptotic factors was increased, while that of antiapoptotic factors was decreased in the DMED group. Moreover, the cell morphology in the cavernous tissue of the DMED group also changed adversely. NO 2 -OA treatment significantly reversed all these changes observed in the DMED group. In conclusion, NO 2 -OA treatment partially improved erectile function in DMED rats through mechanisms that included inhibition of oxidative stress, activation of the NO/cGMP pathway, and a reduction in apoptosis.","PeriodicalId":8483,"journal":{"name":"Asian Journal of Andrology","volume":" ","pages":"57-66"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846833/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10554840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The identification of AMZ2 as a candidate causative gene in a severe teratozoospermia patient characterized by vacuolated spermatozoa. 在一名以空泡精子为特征的重度畸形精子症患者身上发现 AMZ2 作为候选致病基因。

IF 3 2区医学

Asian Journal of Andrology Pub Date : 2024-01-01 Epub Date: 2023-07-14 DOI: 10.4103/aja202321

Liu Liu, Jing Yang, Wen-Jing Zhang, Yi-Ling Zhou, Gui-Jun Zhao, Ya Huang, Shu-Yan Tang

{"title":"The identification of AMZ2 as a candidate causative gene in a severe teratozoospermia patient characterized by vacuolated spermatozoa.","authors":"Liu Liu, Jing Yang, Wen-Jing Zhang, Yi-Ling Zhou, Gui-Jun Zhao, Ya Huang, Shu-Yan Tang","doi":"10.4103/aja202321","DOIUrl":"10.4103/aja202321","url":null,"abstract":"Teratozoospermia with cephalic defects is one of the most severe types of sperm defects known to date. While several monogenic factors are linked to cephalic abnormalities, such as globozoospermia and macrozoospermia, the genetic cause of vacuolated spermatozoa remains inadequately described. Here, we analyzed whole-exome sequencing (WES) data for an individual from a consanguineous family with severely vacuolated spermatozoa. The analysis revealed a novel homozygous c.520A>G (p.Thr174Ala) variant in the archaelysin family metallopeptidase 2 ( AMZ2 ), a gene that encodes a zinc metalloprotease previously shown to be highly expressed in the testes and sperm. Multiple algorithms predicted this variant to be a damaging mutation. Consistent with an autosomal recessive mode of inheritance, this variant was inherited from heterozygous parental carriers. To investigate the potential pathogenicity of the identified variant, we compared the AMZ2 expression in sperm cells from the patient with the AMZ2 variant and from a healthy control. Immunoblot analysis revealed that the homozygous missense variant in AMZ2 abolished AMZ2 expression in the spermatozoa. Our findings reveal a candidate causative gene for vacuolated spermatozoa.","PeriodicalId":8483,"journal":{"name":"Asian Journal of Andrology","volume":" ","pages":"107-111"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846825/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10281321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification of two compound heterozygous GNRHR mutations in two siblings with congenital hypogonadotropic hypogonadism. 在两个患有先天性性腺功能减退症的兄弟姐妹中发现两个复合杂合GNRHR突变。

IF 3 2区医学

Asian Journal of Andrology Pub Date : 2024-01-01 Epub Date: 2023-06-16 DOI: 10.4103/aja20232

Xiao-Bin Wang, Ping Chen, Xue-Er Yu, Zu-Liang Yao, Ting-Chao Guo, Bo-Chen Pan

引用次数: 0