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A New Understanding, Guided by Single-Cell Sequencing, of the Establishment and Maintenance of the Ovarian Reserve in Mammals. 在单细胞测序的指导下，对哺乳动物卵巢储备的建立和维持有了新的认识。
IF 2.3 4区 医学
Sexual Development Pub Date : 2023-01-01 Epub Date: 2022-09-19 DOI: 10.1159/000526426
Emily R Frost, Emmalee A Ford, Alexandra E Peters, Robin Lovell-Badge, Güneş Taylor, Eileen A McLaughlin, Jessie M Sutherland
{"title":"A New Understanding, Guided by Single-Cell Sequencing, of the Establishment and Maintenance of the Ovarian Reserve in Mammals.","authors":"Emily R Frost, Emmalee A Ford, Alexandra E Peters, Robin Lovell-Badge, Güneş Taylor, Eileen A McLaughlin, Jessie M Sutherland","doi":"10.1159/000526426","DOIUrl":"10.1159/000526426","url":null,"abstract":"<p><strong>Background: </strong>Oocytes are a finite and non-renewable resource that are maintained in primordial follicle structures. The ovarian reserve is the totality of primordial follicles, present from birth, within the ovary and its establishment, size, and maintenance dictates the duration of the female reproductive lifespan. Understanding the cellular and molecular dynamics relevant to the establishment and maintenance of the reserve provides the first steps necessary for modulating both individual human and animal reproductive health as well as population dynamics.</p><p><strong>Summary: </strong>This review details the key stages of establishment and maintenance of the ovarian reserve, encompassing germ cell nest formation, germ cell nest breakdown, and primordial follicle formation and activation. Furthermore, we spotlight several formative single-cell sequencing studies that have significantly advanced our knowledge of novel molecular regulators of the ovarian reserve, which may improve our ability to modulate female reproductive lifespans.</p><p><strong>Key messages: </strong>The application of single-cell sequencing to studies of ovarian development in mammals, especially when leveraging genetic and environmental models, offers significant insights into fertility and its regulation. Moreover, comparative studies looking at key stages in the development of the ovarian reserve across species has the potential to impact not just human fertility, but also conservation biology, invasive species management, and agriculture.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"145-155"},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40370386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
The Effects of Pifithrin-µ on Spermatogonial Stem Cell Viability and Pluripotency. Pifithrin-µ 对精原干细胞活力和多能性的影响
IF 2.4 4区 医学
Sexual Development Pub Date : 2023-01-01 Epub Date: 2023-08-23 DOI: 10.1159/000531825
Sara Moghadasi, Ehsan Razeghian, Mehdi Shamsara, Farid Heidari
{"title":"The Effects of Pifithrin-µ on Spermatogonial Stem Cell Viability and Pluripotency.","authors":"Sara Moghadasi, Ehsan Razeghian, Mehdi Shamsara, Farid Heidari","doi":"10.1159/000531825","DOIUrl":"10.1159/000531825","url":null,"abstract":"<p><strong>Introduction: </strong>Spermatogonial stem cells (SSCs) offer remarkable competencies for animal reproduction and overcoming human disease as a result of their differentiation capability. We evaluated the effect of small molecule pifithrin-mu (PFT-µ), a well-known inhibitor of P53 on SSC biological processes such as viability, apoptosis, and gene expression pattern.</p><p><strong>Methods: </strong>The SSCs were isolated from the testes of adult NMRI mice and then cultured in DMEM/F12 medium containing 10% FBS. Then, they were characterized by the immunocytochemistry technique by high PLZF and low c-Kit expressions. SSC colony formation assay was carried out and their viability was estimated by methylthiazolyldiphenyl-tetrazolium bromide (MTT, or 3-[4,5-dimethyl-2-thiazolyl]-2,5-diphenyl-2H-tetrazolium bromide) assay upon exposure to PFT-µ (0, 0.6, 1.2, 2.5, and 5 µ<sc>m</sc>). The apoptosis percentages were also measured using FACS analysis, and finally, Oct4 and Stra8 expression at mRNA levels was assessed using real-time quantitative PCR.</p><p><strong>Results: </strong>The 0.6 and 1.2 µ<sc>m</sc> PFT-µ improved the viability of SSC based on MTT assay results; however, 2.5 and 5 µ<sc>m</sc> PFT-µ reduced SSC viability compared with the control group. Moreover, PFT-µ at lower concentrations enhanced the colony size of SSCs and diminished their apoptosis. As well, exposure to PFT-µ upregulated Oct4 expression while downregulating the meiotic entry marker, Stra8.</p><p><strong>Conclusion: </strong>Based on findings, optimized concentrations of PFT-µ can decrease SSC apoptosis, and conversely potentiate their pluripotency and self-renewal capacities in vitro.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"190-197"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10058548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Front & Back Matter 正面和背面
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-11-01 DOI: 10.1159/000527896
{"title":"Front & Back Matter","authors":"","doi":"10.1159/000527896","DOIUrl":"https://doi.org/10.1159/000527896","url":null,"abstract":"","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45604865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
The Use of Genetics for Reaching a Diagnosis in XY DSD 遗传学在XY型DSD诊断中的应用
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-05-30 DOI: 10.1159/000524881
S. Ahmed, Malika Alimusina, R. Batista, S. Domenice, Nathalia Lisboa Gomes, R. McGowan, Supitcha Patjamontri, B. Mendonca
{"title":"The Use of Genetics for Reaching a Diagnosis in XY DSD","authors":"S. Ahmed, Malika Alimusina, R. Batista, S. Domenice, Nathalia Lisboa Gomes, R. McGowan, Supitcha Patjamontri, B. Mendonca","doi":"10.1159/000524881","DOIUrl":"https://doi.org/10.1159/000524881","url":null,"abstract":"Reaching a firm diagnosis is vital for the long-term management of a patient with a difference or disorder of sex development (DSD). This is especially the case in XY DSD where the diagnostic yield is particularly low. Molecular genetic technology is playing an increasingly important role in the diagnostic process, and it is highly likely that it will be used more often at an earlier stage in the diagnostic process. In many cases of DSD, the clinical utility of molecular genetics is unequivocally clear, but in many other cases there is a need for careful exploration of the benefit of genetic diagnosis through long-term monitoring of these cases. Furthermore, the incorporation of molecular genetics into the diagnostic process requires a careful appreciation of the strengths and weaknesses of the evolving technology, and the interpretation of the results requires a clear understanding of the wide range of conditions that are associated with DSD.","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 1","pages":"207 - 224"},"PeriodicalIF":2.3,"publicationDate":"2022-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48963469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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: 5
CBX2 in DSD: The Quirky Kid on the Block DSD中的CBX2：块上的古怪孩子
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-03-09 DOI: 10.1159/000522164
D. Hart, D. Rodríguez Gutiérrez, A. Biason-Lauber
{"title":"CBX2 in DSD: The Quirky Kid on the Block","authors":"D. Hart, D. Rodríguez Gutiérrez, A. Biason-Lauber","doi":"10.1159/000522164","DOIUrl":"https://doi.org/10.1159/000522164","url":null,"abstract":"Sex development is an intricate and crucial process in all vertebrates that ensures the continued propagation of genetic diversity within a species, and ultimately their survival. Perturbations in this process can manifest as disorders/differences of sex development (DSD). Various transcriptional networks have been linked to development of the gonad into either male or female, which is actively driven by a set of genes that function in a juxtaposed manner and is maintained through the developmental stages to preserve the final sexual identity. One such identified gene is Chromobox homolog 2 (CBX2), an important ortholog of the Polycomb group (PcG) proteins, that functions as both chromatin modifier and highly dynamic transactivator. CBX2 was shown to be an essential factor for gonadal development in mammals, as genetic variants or loss-of-function of CBX2 can cause sex reversal in mice and humans. Here we will provide an overview of CBX2, its biological functions at molecular level, and the CBX2-dependent transcriptional landscape in gonadal development and DSD.","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 1","pages":"162 - 170"},"PeriodicalIF":2.3,"publicationDate":"2022-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42038512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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: 1
Inactivation of the Anti-Müllerian Hormone Receptor Type 2 (amhrII) Gene in Northern Pike (Esox lucius) Results in Male-To-Female Sex Reversal. 北梭鱼抗<s:1> lererian激素受体2型(amhrII)基因失活导致雄性向雌性的性别逆转。
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-01-01 DOI: 10.1159/000521003
Qiaowei Pan, Amaury Herpin, Yann Guiguen
{"title":"Inactivation of the Anti-Müllerian Hormone Receptor Type 2 (amhrII) Gene in Northern Pike (Esox lucius) Results in Male-To-Female Sex Reversal.","authors":"Qiaowei Pan,&nbsp;Amaury Herpin,&nbsp;Yann Guiguen","doi":"10.1159/000521003","DOIUrl":"https://doi.org/10.1159/000521003","url":null,"abstract":"<p><strong>Background: </strong>The anti-müllerian hormone (Amh) pathway is crucial for sexual development in teleosts. A male-specific duplicate of anti-müllerian hormone (amhby) was previously identified as the northern pike (Esox lucius) master sex determination gene. However, the role of its putative cognate receptor, i.e., the anti-müllerian hormone receptor type 2 (amhrII) was unclear in this species.</p><p><strong>Objective: </strong>Here, we investigated the role of amhrII during sexual development of northern pike.</p><p><strong>Method: </strong>We generated stable mutants with deletions in exon 9 of amhrII, inactivating the AmhrII protein using a CRISPR-Cas9-mediated gene knockout strategy.</p><p><strong>Result: </strong>The inactivation of amhrII in northern pike results in a high level of male-to-female sex reversal.</p><p><strong>Conclusion: </strong>This result demonstrates that amhrII is necessary for male sexual development in northern pike and supports the idea that AmhrII is a conserved regulator of the teleosts sex differentiation network.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 4","pages":"289-294"},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9283236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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: 2
Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review. MAP3K1致病变异导致46,xy性腺发育不良:综述。
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-01-01 DOI: 10.1159/000522428
Harry Ostrer
{"title":"Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review.","authors":"Harry Ostrer","doi":"10.1159/000522428","DOIUrl":"https://doi.org/10.1159/000522428","url":null,"abstract":"<p><p>Pathogenic variants in the MAP3K1 gene are an important cause of 46,XY non-syndromic partial and complete gonadal dysgenesis, accounting for at least 4% of cases. Inheritance occurs in a sex-limited, autosomal dominant fashion with virtually complete penetrance in 46,XY individuals. 46,XX carriers appear to have normal fertility and no developmental abnormalities. Pathogenic variants occur almost exclusively within known domains of the MAP3K1 protein, facilitating annotation when identified. Where studied, these variants have been modeled to alter the local MAP3K1 folding and surface domains and have been shown to alter interactions with known binding partners. The net effect of these variants is to increase phosphorylation of downstream targets ERK1, ERK2, and p38, resulting in multiple gain-of-function effects interfering with testis determination and enabling ovarian determination.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 2-3","pages":"92-97"},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9278337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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: 2
Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service. 性发育障碍患者性别分配的时间趋势:跨学科服务的经验。
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-01-01 DOI: 10.1159/000520704
Julia P Vicentin, Mayra de Souza El Beck, Carlos W Germano, Juliana G R Andrade, Beatriz A Barros, Roberto B de Paive E Silva, Marcio L Miranda, Nilma L Viguetti-Campos, Tarsis A P Vieira, Tais N Mazzola, Mara S Guaragna, Helena Fabbri-Scallet, Maricilda P Mello, Antonia P Marques-de-Faria, Andrea T Maciel-Guerra, Gil Guerra-Junior
{"title":"Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service.","authors":"Julia P Vicentin,&nbsp;Mayra de Souza El Beck,&nbsp;Carlos W Germano,&nbsp;Juliana G R Andrade,&nbsp;Beatriz A Barros,&nbsp;Roberto B de Paive E Silva,&nbsp;Marcio L Miranda,&nbsp;Nilma L Viguetti-Campos,&nbsp;Tarsis A P Vieira,&nbsp;Tais N Mazzola,&nbsp;Mara S Guaragna,&nbsp;Helena Fabbri-Scallet,&nbsp;Maricilda P Mello,&nbsp;Antonia P Marques-de-Faria,&nbsp;Andrea T Maciel-Guerra,&nbsp;Gil Guerra-Junior","doi":"10.1159/000520704","DOIUrl":"https://doi.org/10.1159/000520704","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this retrospective study was to verify the association between the time of diagnosis and initial and final sex assignment in a disorder of sex development (DSD) diagnostic group, looking at the age of the patients at first visit, severity of genital ambiguity, and karyotype.</p><p><strong>Methods: </strong>The time of diagnosis was divided into 3 groups: before 2000, between 2000 and 2006, and after 2006. Data were categorized and analyzed using the χ2 test with α < 0.05.</p><p><strong>Results: </strong>A total of 567 cases were analyzed; 307 were assigned as male, 135 as female, and 125 remained undefined at the first visit. After clinical and laboratory evaluations, 369 patients were male and 198 were female. Neither initial nor final sex assignment proportions changed over time, but there were significant differences in the age at first visit, with referral occurring at an earlier age, as well as more severe genital ambiguity presentations, a higher proportion of sex chromosome aberrations, and a lower frequency of 46,XX DSD cases. This occurred both in the sample as a whole (567 cases) and in the group of 125 patients without definitive sex assignment at the first visit. The results were similar when only 284 patients aged less than 12 months at the first visit were analyzed.</p><p><strong>Discussion/conclusion: </strong>Over time, there were no changes in sex assignment proportions, but there was an increased awareness of the need for early referral and changes in clinical, cytogenetic, and diagnostic aspects.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 4","pages":"236-241"},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9283215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Erratum. 勘误表。
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-01-01 Epub Date: 2021-11-08 DOI: 10.1159/000520607
{"title":"Erratum.","authors":"","doi":"10.1159/000520607","DOIUrl":"https://doi.org/10.1159/000520607","url":null,"abstract":"","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 1","pages":"70"},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39854505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Suggested Cutoff Point for Testosterone by Liquid Chromatography with Tandem Mass Spectrometry (LC-MS/MS) after Stimulation with Recombinant Human Chorionic Gonadotropin. 重组人绒毛膜促性腺激素刺激后液相色谱-串联质谱(LC-MS/MS)测定睾酮的建议截断点。
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-01-01 DOI: 10.1159/000519422
Leticia R de Oliveira, Carlos A Longui, Guilherme Guaragna-Filho, José L da Costa, Rafael Lanaro, Maria I Chiamolera, Maricilda P de Mello, André M Morcillo, Andrea T Maciel-Guerra, Gil Guerra-Junior
{"title":"Suggested Cutoff Point for Testosterone by Liquid Chromatography with Tandem Mass Spectrometry (LC-MS/MS) after Stimulation with Recombinant Human Chorionic Gonadotropin.","authors":"Leticia R de Oliveira,&nbsp;Carlos A Longui,&nbsp;Guilherme Guaragna-Filho,&nbsp;José L da Costa,&nbsp;Rafael Lanaro,&nbsp;Maria I Chiamolera,&nbsp;Maricilda P de Mello,&nbsp;André M Morcillo,&nbsp;Andrea T Maciel-Guerra,&nbsp;Gil Guerra-Junior","doi":"10.1159/000519422","DOIUrl":"https://doi.org/10.1159/000519422","url":null,"abstract":"The human chorionic gonadotropin (hCG) stimulation test that evaluates gonadal steroidogenesis is crucial in the assessment of patients with 46,XY disorders of sex development (DSD). This study aimed to determine a testosterone (T) cutoff level that indicates an adequate testicular function using LC-MS/MS after stimulation with recombinant human chorionic gonadotropin (rhCG) in a single dose. Nineteen prepubertal children with 46,XY DSD and normal T secretion were evaluated. T and dihydrotestosterone (DHT) levels were measured by liquid chromatography technique with tandem mass spectrometry (LC-MS/MS) before and 7 days after rhCG application at 250 µg. We suggest 0.89 ng/mL as the cutoff point for T after rhCG stimulation analyzed by LC-MS/MS.","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 4","pages":"266-269"},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10738758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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: 2
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