Basic and Clinical Andrology最新文献

{"title":"Correction: Efficient pathway for men fertility preservation in testicular cancer or lymphoma: a cross-sectional study of national 2018 data.","authors":"Ségolène Prades, Sarah-Lyne Jos, Jacqueline Saïas-Magnan, Louis Bujan, Florence Eustache, Oxana Blagosklonov, Eric Lechevallier, Florence Brugnon, Vanessa Loup-Cabaniols, Dorian Bosquet, Marie Prades, Bérengère Ducrocq, Céline Chalas, Sandrine Giscard-d'Estaing, Anne Mayeur, Isabelle Koscinsky, Françoise Schmitt, Aline Papaxanthos-Roche, Marius Teletin, Emmanuelle Thibault, Damien Beauvillard, Sophie Mirallie, Béatrice Delepine, Annie Benhaim, Pascale May-Panloup, Ségolène Veau, Cynthia Frapsauce, Patricia Fauque, Régis Costello, Nathalie Rives, Catherine Metzler-Guillemain, Jeanne Perrin","doi":"10.1186/s12610-024-00221-6","DOIUrl":"10.1186/s12610-024-00221-6","url":null,"abstract":"","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10845733/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139691128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family.","authors":"Khalid Khan, Xiangjun Zhang, Sobia Dil, Ihsan Khan, Ahsanullah Unar, Jingwei Ye, Aurang Zeb, Muhammad Zubair, Wasim Shah, Huan Zhang, Muzammil Ahmad Khan, Limin Wu, Bo Xu, Hui Ma, Zina Wen, Qinghua Shi","doi":"10.1186/s12610-024-00220-7","DOIUrl":"10.1186/s12610-024-00220-7","url":null,"abstract":"<p><strong>Background: </strong>Acephalic spermatozoa syndrome is a rare type of teratozoospermia causing male infertility due to detachment of the sperm head and flagellum, which precludes fertilization potential. Although loss-of-function variations in several genes, including TSGA10, have been associated with acephalic spermatozoa syndrome, the genetic cause of many cases remains unclear.</p><p><strong>Results: </strong>We recruited a Pakistani family with two infertile brothers who suffered from acephalic spermatozoa syndrome. Through whole-exome sequencing (WES) followed by Sanger sequencing, we identified a novel missense variant in TSGA10 (c.1112T > C, p. Leu371Pro), which recessively co-segregated with the acephalic spermatozoa syndrome within this family. Ultrastructural analyses of spermatozoa from the patient revealed that 98% of flagellar cross-sections displayed abnormal axonemal ultrastructure, in addition to the head-flagellum detachment. Real-time quantitative PCR analysis revealed almost no detectable TSAG10 mRNA and western blot analysis also failed to detect TSAG10 protein in patient's sperm samples while TSGA10 expression was clearly detected in control samples. Consistently, immunofluorescence analysis demonstrated the presence of TSGA10 signal in the midpiece of sperm from the control but a complete absence of TSGA10 signal in sperm from the patient.</p><p><strong>Conclusion: </strong>Altogether, our study identifies a novel TSGA10 pathogenic variant as a cause of acephalic spermatozoa syndrome in this family and provides information regarding the clinical manifestations associated with TSGA10 variants in human.</p>","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10840149/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139691127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Etiology, clinical manifestations, and management methods of cryptitis beside the preputial frenulum in men","authors":"Wenge Fan, Qingsong Zhang, Zhijiang Fan, Mei Wei, Yuan Zhu","doi":"10.1186/s12610-024-00219-0","DOIUrl":"https://doi.org/10.1186/s12610-024-00219-0","url":null,"abstract":"Inflammatory diseases may occur within the crypt beside the preputial frenulum in men. This study was performed to gain an understanding of the etiology, clinical manifestations, and management methods of cryptitis beside the preputial frenulum in men. Thirteen patients treated for cryptitis beside the preputial frenulum served as the observation group, and 40 healthy individuals served as the control group. The patients’ clinical manifestation was the presence of a yellowish oily substance embedded in the crypt. Wiping off the substance revealed a conical blind cavity-like structure with an opening diameter of 1 to 5 mm (2.8 ± 1.3 mm) and depth of 1 to 4 mm (2.5 ± 1.1 mm). No blind cavity-like structures in the crypt were found in the control group. The shortest distance between the opening edges of the bilateral crypts in the observation and control groups was 6 to 14 mm (10.3 ± 2.4 mm) and 2 to 10 mm (3.9 ± 1.9 mm), respectively, with a statistically significant difference. Examination for pathogens in the secretions from skin lesions showed that the three most common pathogens were Candida albicans, Staphylococcus aureus, and Escherichia coli. All patients recovered after antibiotic treatment. A blind cavity-like structure in the crypt may be related to excessive width of the preputial frenulum. Cryptitis may be a secondary infection caused by smegma trapped in the blind cavity-like structure. Maintaining cleanliness in the frenulum area may help to prevent the occurrence of cryptitis. Antibiotic treatment is effective.","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139475972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management of men with AZFc deletions","authors":"Peter N Schlegel","doi":"10.1186/s12610-023-00217-8","DOIUrl":"https://doi.org/10.1186/s12610-023-00217-8","url":null,"abstract":"<p><b>To the Editor:</b></p><p>The published article by Deng et al. [1] confirms a number of concepts that have been previously published regarding management of men with non-obstructive azoospermia (NOA) associated with AZFc deletions. A critical point of their manuscript is the demonstration of the poor predictive value of fine needle aspiration (FNA) mapping for detection of sperm within the testes of men with NOA. For men with negative FNA maps (no sperm seen), sperm were able to be found and used for assisted reproductive using the more effective microTESE (testicular sperm extraction) approach for sperm retrieval in 65% of men. This raises the question of the clinical utility of FNA mapping in management of men with NOA. In essence, why would you ever use FNA mapping for the management of non-obstructive azoospermia?</p><p>Prior meta-analyses of comparative trials have demonstrated that FNA is twofold less likely to find sperm in NOA than standard multi-biopsy approaches, and microTESE is 1.5-fold more effective at finding sperm than the multi-biopsy approach [2]. Given the high effectiveness of microTESE, there appears to be no situation when you would consider the FNA map – as its results would lead to microTESE, whether the map showed sperm or not. As noted in ASRM/AUA guidelines [3], microTESE remains the gold standard – the most effective and arguably safest approach for sperm retrieval – in NOA.</p><p>Several other facets of the management of men with AZFc deletions are important to highlight. Overall, the ability to get sperm from these men is quite high, relative to other etiologies of (or even idiopathic) NOA. This manuscript only focused on men with azoospermia. But, of particular importance to consider is the relative frequency of cryptozoospermia in men with AZFc deletions. We have observed that nearly 70% of men with AZFc deletions will have rare sperm in the ejaculate. This has led us to perform a careful semen analysis, including the potential evaluation of several aliquots of the centrifuged semen specimen on the day of planned sperm retrieval to avoid unnecessary surgery for these men who can be effectively treated with ejaculated sperm. We have even found and successfully used sperm from the ejaculate in men with AZFc deletions and prior failed biopsy retrieval of sperm.</p><p>In this article, Deng et al. have reported on those men with AZFc deletions and azoospermia, but it is important to consider the possibility of having rare sperm identified in the ejaculate for AZFc-deleted patients. In a recent report [4], we have found that for unselected men with NOA, 9% or more of men with prior documented azoospermia can be found to have rare sperm in the ejaculate – obviating the need for planned surgery – if semen analysis is repeated on the day of sperm retrieval.</p><p>Deng et al. are to be congratulated for bringing together data on management of men with AZFc deletions and NOA. These observations are a valuable contributio","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139421208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men","authors":"J. Fedder, C. Fagerberg, M. W. Jørgensen, C. H. Gravholt, A. Berglund, U. B. Knudsen, A. Skakkebæk","doi":"10.1186/s12610-023-00218-7","DOIUrl":"https://doi.org/10.1186/s12610-023-00218-7","url":null,"abstract":"<p><b>Correction: Basic Clin. Androl. 33, 37 (2023)</b></p><p><b>https://doi.org/10.1186/s12610-023-00212-z</b></p><p>Following publication of the original article [1], the authors reported a typesetting error in the <b>Discussion</b> section. The heading <b>45,X and 46,XX males</b> was mistakenly written as X45,X and 46,XX males. The publishers apologize for this typesetting error.</p><p>The original article [1] has been corrected.</p><ol data-track-component=\"outbound reference\"><li data-counter=\"1.\"><p>Fedder J, Fagerberg C, Jørgensen M, et al. Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men. Basic Clin Androl. 2023;33:37. https://doi.org/10.1186/s12610-023-00212-z.</p><p>Article CAS PubMed PubMed Central Google Scholar </p></li></ol><p>Download references<svg aria-hidden=\"true\" focusable=\"false\" height=\"16\" role=\"img\" width=\"16\"><use xlink:href=\"#icon-eds-i-download-medium\" xmlns:xlink=\"http://www.w3.org/1999/xlink\"></use></svg></p><h3>Authors and Affiliations</h3><ol><li><p>Centre of Andrology &amp; Fertility Clinic, Odense University Hospital, Kløvervænget 23, 5000, Odense, Denmark</p><p>J. Fedder</p></li><li><p>Department of Clinical Medicine, University of Southern Denmark, Odense, Denmark</p><p>J. Fedder</p></li><li><p>Fertility Clinic, Horsens Hospital, Horsens, Denmark</p><p>J. Fedder &amp; U. B. Knudsen</p></li><li><p>Department of Clinical Genetics, Odense University Hospital, Odense, Denmark</p><p>C. Fagerberg &amp; A. Berglund</p></li><li><p>Department of Clinical Genetics, Lillebaelt Hospital, Vejle, Denmark</p><p>M. W. Jørgensen</p></li><li><p>Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark</p><p>C. H. Gravholt, A. Berglund &amp; A. Skakkebæk</p></li><li><p>Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark</p><p>C. H. Gravholt</p></li><li><p>Department of Clinical Medicine, Aarhus University, Aarhus, Denmark</p><p>C. H. Gravholt, U. B. Knudsen &amp; A. Skakkebæk</p></li><li><p>Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark</p><p>A. Berglund &amp; A. Skakkebæk</p></li></ol><span>Authors</span><ol><li><span>J. Fedder</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>C. Fagerberg</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>M. W. Jørgensen</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>C. H. Gravholt</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>A. Berglund</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>U. B. Knudsen</span>View author publicati","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139102394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of acupuncture for psychogenic erectile dysfunction: a randomized, sham-controlled trial","authors":"Hao Wang, Xulu Lei, Dongyue Ma, Ziwei Zhao, Anmin Wang, Guanchao Du, Jiwei Zhang, Fu Wang, Jun Guo","doi":"10.1186/s12610-023-00215-w","DOIUrl":"https://doi.org/10.1186/s12610-023-00215-w","url":null,"abstract":"Psychogenic erectile dysfunction (pED) is a common sexual dysfunction often accompanied by psychosomatic factors. Its treatment includes oral medications, psychotherapy, and behavioral therapy. Acupuncture’s effect on erectile function in pED patients remains to be investigated. This randomized study evaluated the effects of acupuncture and sham acupuncture in pED patients. Altogether, 66 men with pED were randomized to the acupuncture (n = 33) or sham acupuncture group (n = 33). Both groups have a 6-week treatment with 18 sessions. Primary outcome was the International Index of Erectile Function-5 (IIEF-5) at 6 weeks. Secondary outcomes were IIEF-5 (weeks 2, 4, and 10), erection hardness score (EHS), sexual encounter profile-2 (SEP-2), SEP-3, self-rating anxiety scale (SAS), and self-rating depression scale (SDS). Among the 66 participants, 64 completed the outcome measurements at week 10. Both acupuncture and sham acupuncture groups had improved IIEF-5 and EHS and decreased SAS and SDS post-treatment (p < 0.05). The acupuncture group had significantly better improvement in IIEF-5, EHS, and SEP-3 and significantly reduced SAS and SDS than the sham acupuncture group (p < 0.05). The improvement in SEP-2 post-treatment was not significantly different between the two groups (p > 0.05). There were no serious adverse events. The 6-week acupuncture treatment significantly improved the erectile capacity and psychosomatic status of pED patients. ChiCTR2200064345 (Chinese Clinical Trial Registry) ( https://www.chictr.org.cn/showproj.html?proj=174873 ).","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2023-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138826205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nrf2 enhances the therapeutic efficiency of adipose-derived stem cells in the treatment of neurogenic erectile dysfunction in a rat model.","authors":"Shangbin Yang, Wancheng Shi, Qianhui Liu, Yingqiu Song, Jiafeng Fang","doi":"10.1186/s12610-023-00214-x","DOIUrl":"10.1186/s12610-023-00214-x","url":null,"abstract":"<p><strong>Background: </strong>Erectile dysfunction (ED) caused by intraoperative nerve injury is a major complication of pelvic surgery. Adipose-derived stem cells (ADSCs) have presented therapeutic potential in a rat model of bilateral cavernous nerve injury (BCNI), while inadequate in vivo viability has largely limited their application. Nuclear factor-E2-related Factor (Nrf2) is a key transcription factor that regulates cellular anti-oxidative stress. In this work, we investigated the effect of Nrf2 expression regulation on the viability of ADSCs, and explore its repair potential in a BCNI rat model.</p><p><strong>Results: </strong>The survival time of tert-Butylhydroquinone (tBHQ)-ADSCs in BCNI model increased obviously. In addition, the tBHQ-ADSCs group presented better restoration of major pelvic ganglion (MPG) nerve contents and fibers, better improvement of erectile function, and less penile fibrosis than the other groups. Moreover, the expression of Nrf2 and superoxide dismutase 1 (SOD1) were higher than those of other groups.</p><p><strong>Conclusion: </strong>Nrf2 could enhance the anti-oxidative stress ability of ADSCs, so as to improve the therapeutic effect of ADSCs on BCNI rat model.</p>","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10731878/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138796267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Which inflammatory marker, between systemic immune-inflammation index and neutrophil to eosinophil ratio, is associated with Peyronie’s disease and are there any implications for a better understanding of its mechanisms?","authors":"Felice Crocetto, Ciro Imbimbo, Biagio Barone, Davide Turchino, Umberto Marcello Bracale, Antonio Peluso, Marco Panagrosso, Alfonso Falcone, Benito Fabio Mirto, Luigi De Luca, Enrico Sicignano, Francesco Del Giudice, Gian Maria Busetto, Giuseppe Lucarelli, Gaetano Giampaglia, Celeste Manfredi, Matteo Ferro, Giovanni Tarantino","doi":"10.1186/s12610-023-00213-y","DOIUrl":"https://doi.org/10.1186/s12610-023-00213-y","url":null,"abstract":"Peyronie’s disease affects up to 9% of men and is often accompanied by pain and/or erectile dysfunction. It is characterized by an inflammatory process that is the grassroots of the subsequent fibrosis stage. There is an unmet need to evaluate its onset and progression. Among the newly proposed biomarkers of inflammation, authors developed a novel systemic immune-inflammation index (SII) based on lymphocyte, neutrophil, and platelet counts. Similarly, a recent study reported that a neutrophil-to-eosinophil ratio (NER) represents systemic inflammation. A 49-patient group with Peyronie’s disease as confronted with 50 well-matched for age and BMI controls. As laboratory evaluation of inflammation, SII, NER and the eosinophil to neutrophil ratio (ENR) were studied. As a likely risk factor for the presence of Peyronie’s disease, a higher prevalence of hypercholesterolemia, hyperglycemia and hypertension was discovered in the patients compared to controls. A significant difference was found in the median values of the NER between the two selected groups, i.e., 32.5 versus 17.3 (p = 0.0021). As expected, also ENR was significantly different. The receiver operating characteristic curves for SII, ENR and NER were 0.55, 0.32 and 0.67, respectively, highlighting the best performance of NER. The cut-off for NER was 12.1, according to the Youden test. According to our results, any evaluation of circulating eosinophil, evaluated as NER, beyond being a signature of immuno-inflammatory response, help assess tissue homeostasis, since eosinophils are now considered multifunctional leukocytes and give a picture of the inflammatory process and repair process belonging to Peyronie’s disease.","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138743878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Mechanism of Shugan Yidan fang, a Chinese herbal formula, in rat model of premature ejaculation","authors":"Qiang Han, Jun Guo, Renyuan Wang, Jiangminzi Li, Fu Wang, Qinghe Gao, Jiwei Zhang, Hetian Wang, Yin Zeng","doi":"10.1186/s12610-023-00216-9","DOIUrl":"https://doi.org/10.1186/s12610-023-00216-9","url":null,"abstract":"<p><b>Correction: Basic Clin Androl 33, 25 (2023)</b></p><p><b>https://doi.org/10.1186/s12610-023-00200-3</b></p><p>Following publication of the original article [1], the authors reported an error in the title of the article. The original title “Mechanism of Shugan Yidan fan, a Chinese herbal formula, in rat model of premature ejaculation” should be replaced with “Mechanism of Shugan Yidan fang, a Chinese herbal formula, in rat model of premature ejaculation”. Principally, it should be Shugan Yidan fang, not Shugan Yidan fan.</p><p>We sincerely apologize for the error.</p><p>The original article [1] has been corrected.</p><ol data-track-component=\"outbound reference\"><li data-counter=\"1.\"><p>Han Q, Guo J, Wang R, et al. Mechanism of Shugan Yidan fang, a Chinese herbal formula, in rat model of premature ejaculation. Basic Clin Androl. 2023;33:25. https://doi.org/10.1186/s12610-023-00200-3.</p><p>Article PubMed PubMed Central Google Scholar </p></li></ol><p>Download references<svg aria-hidden=\"true\" focusable=\"false\" height=\"16\" role=\"img\" width=\"16\"><use xlink:href=\"#icon-eds-i-download-medium\" xmlns:xlink=\"http://www.w3.org/1999/xlink\"></use></svg></p><h3>Authors and Affiliations</h3><ol><li><p>Department of Andrology, Dongcheng District, Beijing Hospital of Traditional Chinese Medicine, Capital Medical University, 23 Art Gallery Back Street, Beijing, China</p><p>Qiang Han, Renyuan Wang, Hetian Wang &amp; Yin Zeng</p></li><li><p>Department of Andrology, Xiyuan Hospital of China Academy of Traditional Chinese Medicine, Beijing, 100089, China</p><p>Jun Guo, Fu Wang, Qinghe Gao &amp; Jiwei Zhang</p></li><li><p>Department of Endocrinology, Beijing Hospital of Traditional Chinese Medicine, Capital Medical University, Beijing, 100010, China</p><p>Jiangminzi Li</p></li></ol><span>Authors</span><ol><li><span>Qiang Han</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Jun Guo</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Renyuan Wang</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Jiangminzi Li</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Fu Wang</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Qinghe Gao</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Jiwei Zhang</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Hetian Wang</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2023-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138715217","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men","authors":"J Fedder, C Fagerberg, MW Jørgensen, CH Gravholt, A Berglund, UB Knudsen, A Skakkebæk","doi":"10.1186/s12610-023-00212-z","DOIUrl":"https://doi.org/10.1186/s12610-023-00212-z","url":null,"abstract":"Structural abnormalities as well as minor variations of the Y chromosome may cause disorders of sex differentiation or, more frequently, azoospermia. This study aimed to determine the prevalence of loss of Y chromosome material within the spectrum ranging from small microdeletions in the azoospermia factor region (AZF) to complete loss of the Y chromosome in azoospermic men. Eleven of 865 azoospermic men (1.3%) collected from 1997 to 2022 were found to have a karyotype including a 45,X cell line. Two had a pure 45,X karyotype and nine had a 45,X/46,XY mosaic karyotype. The AZF region, or part of it, was deleted in eight of the nine men with a structural abnormal Y-chromosome. Seven men had a karyotype with a structural abnormal Y chromosome in a non-mosaic form. In addition, Y chromosome microdeletions were found in 34 men with a structural normal Y chromosome. No congenital malformations were detected by echocardiography and ultrasonography of the kidneys of the 11 men with a 45,X mosaic or non-mosaic cell line. In men with azoospermia, Y chromosome loss ranging from small microdeletions to complete loss of the Y chromosome was found in 6.1% (53/865). Partial AZFb microdeletions may give a milder testicular phenotype compared to complete AZFb microdeletions.","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2023-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138630207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}