Sexual Development最新文献

筛选
英文 中文
Evidence for sult1st6y as a Major Candidate Sex-Determining Gene in Pacific Bluefin Tuna. sult1st6y作为太平洋蓝鳍金枪鱼主要候选性别决定基因的证据。
IF 2.4 4区 医学
Sexual Development Pub Date : 2026-01-01 Epub Date: 2025-11-29 DOI: 10.1159/000549624
Takao Hayashida, Satoshi Soma, Yukinori Kazeto, Yoji Nakamura
{"title":"Evidence for <italic>sult1st6y</italic> as a Major Candidate Sex-Determining Gene in Pacific Bluefin Tuna.","authors":"Takao Hayashida, Satoshi Soma, Yukinori Kazeto, Yoji Nakamura","doi":"10.1159/000549624","DOIUrl":"10.1159/000549624","url":null,"abstract":"<p><strong>Introduction: </strong>The Y chromosome-linked gene sult1st6y (a homolog of the estrogen sulfotransferase gene) has recently been identified in Thunnus, a genus characterized by an XX/XY sex determination system. This study examined whether sult1st6y is a sex-determining gene in bluefin tuna (Thunnus orientalis).</p><p><strong>Methods: </strong>The expression of sult1st6y was examined using polymerase chain reaction analyses and in situ hybridization. Sult1st6y expression in masculinized XX testes produced by aromatase inhibitor administration and the expression profile of the sult1st6y mutant, which was produced using CRISPR/Cas9, were examined.</p><p><strong>Results: </strong>Sult1st6y was specifically expressed in XY gonads during sex differentiation. The onset of sult1st6y expression preceded that of other genes promoting sex differentiation. Sult1st6y expression was not detected in masculinized XX testes, indicating that gonads can differentiate into testes without sult1st6y if estrogens are depleted. The Sult1st6y mutant XY gonad showed a gene expression pattern similar to that of wild-type XX gonads.</p><p><strong>Conclusion: </strong>Our results collectively suggest that sult1st6y is at the top of the molecular cascade that regulates gonadal sex differentiation. Sult1st6y may trigger testicular differentiation by deactivating estrogens, although its biochemical activity should be examined. This study provides evidence that sult1st6y is a major candidate sex-determining gene in tuna.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"1-13"},"PeriodicalIF":2.4,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12755888/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145649404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Erratum. 勘误表。
IF 2.4 4区 医学
Sexual Development Pub Date : 2026-01-01 Epub Date: 2026-02-04 DOI: 10.1159/000550026
{"title":"Erratum.","authors":"","doi":"10.1159/000550026","DOIUrl":"10.1159/000550026","url":null,"abstract":"<p><p>In the article \"Sexual Dimorphic Expression of Dmrt1 in Adult Japanese Gecko (Gekko japonicus)\" [Sex Dev. 2025;19(1-6):39-50; https://doi.org/10.1159/000548987] by Ping et al., the 1st author's name should correctly read \"Jun Ping.\"</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"20 1-6","pages":"14"},"PeriodicalIF":2.4,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13143254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146120788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Sexual Dimorphism in Facial Morphology and Skin Color in the Horn of Africa. 非洲之角的面部形态和肤色的性别二态性。
IF 2.4 4区 医学
Sexual Development Pub Date : 2025-12-05 DOI: 10.1159/000549901
Karel Kleisner, Petra Frýdlová, Hassan Sh Abdirahman Elmi, Mukhtar Abdi Omar, Abdirahman Ahmed Muhumed, Jitka Jančúchová Lásková, Samatar Abshir Mahamed, Solomon Yared, Elyas Abdulahi, Šimon Pokorný, David Král, Daniel Alex Berti, Viktor Černý, Daniel Frynta
{"title":"Sexual Dimorphism in Facial Morphology and Skin Color in the Horn of Africa.","authors":"Karel Kleisner, Petra Frýdlová, Hassan Sh Abdirahman Elmi, Mukhtar Abdi Omar, Abdirahman Ahmed Muhumed, Jitka Jančúchová Lásková, Samatar Abshir Mahamed, Solomon Yared, Elyas Abdulahi, Šimon Pokorný, David Král, Daniel Alex Berti, Viktor Černý, Daniel Frynta","doi":"10.1159/000549901","DOIUrl":"10.1159/000549901","url":null,"abstract":"<p><strong>Introduction: </strong>Previous research has shown substantial variation in sexual dimorphism of facial structure and skin color across human populations. This study investigates sexual dimorphism in both facial shape and skin color in understudied populations from the Horn of Africa - Somalis and Ethiopians - focusing on the relationship between facial morphology and pigmentation traits.</p><p><strong>Methods: </strong>Standardized frontal and profile photographs were collected from participants and analyzed using geometric morphometrics. Sexual shape dimorphism (SShD) was calculated by projecting each individual's facial shape onto a vector connecting average male and female shapes in Procrustes-aligned morphospace; higher values indicate more masculine morphology. Sexual color dimorphism (SCoD) was computed similarly, by projecting individual skin color values (from forehead and cheeks) onto a vector defined by average male-female difference in the CIE Lab* color space. Trajectory analysis and Bayesian hierarchical modelling were performed to examine associations between SShD and SCoD.</p><p><strong>Results: </strong>Significant sexual dimorphism was detected in both facial shape and skin color across both populations. Male faces tended to be more robust and darker, while female faces were more gracile and lighter-skinned. However, despite group-level sex differences, individual-level associations between facial structure and skin pigmentation were weak or absent. Somali participants exhibited greater dimorphism in skin color compared to Ethiopians, while facial shape dimorphism remained consistent between groups.</p><p><strong>Conclusion: </strong>Both target populations revealed significant sexual dimorphism in both structural and pigmentation facial traits. However, in contrast to previous findings reported in certain West African populations, we found no statistically reliable association between these two traits at the individual level. This decoupling may indicate distinct evolutionary or ecological pressures shaping morphological and pigmentation traits. Our findings suggest that no universal trade-off or consistent relationship exists between morphological and pigmentation components of sexual dimorphism across human populations.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"1-21"},"PeriodicalIF":2.4,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145702711","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
Sex-biased gene expression in the northern pipefish (Syngnathus fuscus), a species with male pregnancy, is widespread and linked to tissue specificity. 北方管鱼(Syngnathus fuscus)是一种雄性怀孕的物种,性别偏倚基因表达普遍存在,并与组织特异性有关。
IF 2.4 4区 医学
Sexual Development Pub Date : 2025-12-04 DOI: 10.1159/000549900
Nicole M Tosto, Emily Rose, Heather D Mason, Sarah P Flanagan
{"title":"Sex-biased gene expression in the northern pipefish (Syngnathus fuscus), a species with male pregnancy, is widespread and linked to tissue specificity.","authors":"Nicole M Tosto, Emily Rose, Heather D Mason, Sarah P Flanagan","doi":"10.1159/000549900","DOIUrl":"10.1159/000549900","url":null,"abstract":"<p><strong>Introduction: </strong>Sexual conflict is pervasive and can favor the evolution of differential gene expression patterns between males and females. The evolution of such sex-biased expression patterns is constrained by pleiotropic functions of differentially expressed genes, such as widespread expression across tissues.</p><p><strong>Methods: </strong>We investigated sex-biased gene expression and its relationship to tissue specificity in reproductive and somatic organs in the Northern pipefish, Syngnathus fuscus, a polygynandrous species with extreme paternal care and no evidence of sex chromosomes - conditions ripe for intra-locus sexual conflict.</p><p><strong>Results: </strong>We found patterns of sex-biased expression in the gonads, liver, and gills of the Northern pipefish, with the largest number of sex-biased genes identified in the gonads. In general, sex-biased genes were only more tissue-specific in the reproductive tissues (gonads), but not in either of the somatic tissues (liver or gills). Sex-biased genes with evidence of branch-specific selection were also more tissue specific.</p><p><strong>Discussion: </strong>We highlight the potential for different sex-specific selection pressures to be acting on each tissue type as there were widespread differences in the protein classes represented by sex-biased genes across both organs and sexes, although sex-biased genes did not experience stronger episodic selection than unbiased genes. Furthermore, our results support the hypothesis that broad expression can constrain the molecular evolution of a gene. The work presented here supports the potential for sex-biased gene expression to act as a mechanism for phenotypic differentiation between the sexes and increases our knowledge of patterns of gene expression in an unusual group of fishes.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"1-29"},"PeriodicalIF":2.4,"publicationDate":"2025-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145702783","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
Elevated Testosterone Is Required for Male Sexual Behaviour and Dynamic Colour Change in Veiled Chameleons. 雄性性行为和蒙着面纱的变色龙的动态颜色变化需要升高的睾丸激素。
IF 2.4 4区 医学
Sexual Development Pub Date : 2025-10-20 DOI: 10.1159/000548930
Anna Bauerová, Lukáš Kratochvíl, Lukáš Kubička
{"title":"Elevated Testosterone Is Required for Male Sexual Behaviour and Dynamic Colour Change in Veiled Chameleons.","authors":"Anna Bauerová, Lukáš Kratochvíl, Lukáš Kubička","doi":"10.1159/000548930","DOIUrl":"10.1159/000548930","url":null,"abstract":"<p><strong>Introduction: </strong>Sex-specific genotype and early organization can influence the expression of sexually dimorphic traits in vertebrates. We tested these hypotheses in male-typical behaviour and rapid change to bright colouration in the veiled chameleon (Chamaeleo calyptratus) with XX/XY sex chromosomes.</p><p><strong>Methods: </strong>Hormonal manipulations included castration with and without testosterone replacement and testosterone administration in females.</p><p><strong>Results: </strong>Long-term testosterone treatment induced male-typical sexual behaviour and an ability to switch to bright colouration in females, while castration suppressed these traits in males. These observations document that elevated testosterone alone is sufficient for the expression of these traits in both males and females. Surprisingly, high testosterone levels led to indiscriminate courtship behaviour, with frequent mating attempts directed at conspecifics regardless of their sex and testosterone level in both home cages and neutral arenas. This unexpected behaviour suggests that visual cues, such as body and head-casque size, may not reliably guide sex recognition during short distance encounters.</p><p><strong>Conclusion: </strong>The dependence of the male-typical sexual behaviour and colour change on the elevated androgen levels contrast sharply with earlier results on skeletal traits (body size and head-casque size), which are fully developed in castrated males, demonstrating that the ontogeny of the sex-typical phenotype involves different mechanisms in the emerging model species of chameleons.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"1"},"PeriodicalIF":2.4,"publicationDate":"2025-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145349552","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
SOX9 gene variants in 27 French Bulldogs with disorder of sex development (XX, SRY-negative): identification of first case of skeletal abnormalities associated with SOX9 triplication. 27只性发育障碍(XX, sry阴性)法国斗牛犬的SOX9基因变异:鉴定首例与SOX9三倍相关的骨骼异常
IF 2.4 4区 医学
Sexual Development Pub Date : 2025-08-28 DOI: 10.1159/000548218
Joanna Nowacka-Woszuk, Sara Albarella, Brygida Slaska, Dorota Rozanska, Wojciech Nizanski, Stanislaw Dzimira, Natalia Sowinska, Marta Mikolajczak, Tomasz Nowak, Marta Sobczak, Zuzanna Sawicz, Emanuele D'Anza, Izabela Szczerbal, Marek Switonski
{"title":"SOX9 gene variants in 27 French Bulldogs with disorder of sex development (XX, SRY-negative): identification of first case of skeletal abnormalities associated with SOX9 triplication.","authors":"Joanna Nowacka-Woszuk, Sara Albarella, Brygida Slaska, Dorota Rozanska, Wojciech Nizanski, Stanislaw Dzimira, Natalia Sowinska, Marta Mikolajczak, Tomasz Nowak, Marta Sobczak, Zuzanna Sawicz, Emanuele D'Anza, Izabela Szczerbal, Marek Switonski","doi":"10.1159/000548218","DOIUrl":"https://doi.org/10.1159/000548218","url":null,"abstract":"<p><strong>Introduction: </strong>The SOX9 gene encodes a transcription factor that acts downstream of the Y-linked SRY gene and plays a pivotal role in fetal testis development. Duplication of SOX9 or its regulatory sequences is a known cause of testicular or ovotesticular disorder of sex development (DSD) in chromosomal females (XX DSD). Numerous reports have described canine XX DSD, characterized by virilization (e.g., enlarged clitoris) and the presence of testes or ovotestes. This study aimed to identify SOX9 variants in a cohort of French Bulldogs with XX (SRY-negative) DSD.</p><p><strong>Methods: </strong>In total, 27 DSD dogs were studied, including 19 with abdominal, spermatogenetically inactive testes; four with inactive testis and ovotestis; one with inactive testis and ovary; one with ovotestes; and in two dogs, histological analysis could not be performed. Moreover, 24 control females of the same breed, all with normal external female genitalia, were included.</p><p><strong>Results: </strong>Three known DNA variants were identified in SOX9: a 3 bp insertion/deletion (CCT/---, rs852828782), a T>C SNP (rs22704771) in the 5' UTR, and an intronic T>G SNP (rs9183825). These variants were rare, and their distribution was similar in both cohorts. Additionally, the number of SOX9 gene copies was assessed using ddPCR. A single XX DSD case with additional skeletal malformations carried three copies of SOX9, while all other cases and control females had two copies.</p><p><strong>Conclusion: </strong>We conclude that SOX9 duplication is a rare cause of XX DSD in French Bulldogs, and that the identified sequence variants in this gene are not associated with the disorder.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"1-11"},"PeriodicalIF":2.4,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145034455","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
Differentially Expressed MicroRNAs in Testes of Dominant and Subordinate Nile Tilapia Males and Identification of Oni-miR-499 as Regulator of amh Gene Expression. 尼罗罗非鱼雄雄睾丸中mirna的差异表达及oni-miR-499作为amh基因表达调控因子的鉴定
IF 2.4 4区 医学
Sexual Development Pub Date : 2025-05-08 DOI: 10.1159/000546304
Rebecca Prause, Josephin Eckart, Jana Skrobanek, Michelle Thönnes, Frank Pfennig
{"title":"Differentially Expressed MicroRNAs in Testes of Dominant and Subordinate Nile Tilapia Males and Identification of Oni-miR-499 as Regulator of amh Gene Expression.","authors":"Rebecca Prause, Josephin Eckart, Jana Skrobanek, Michelle Thönnes, Frank Pfennig","doi":"10.1159/000546304","DOIUrl":"10.1159/000546304","url":null,"abstract":"<p><strong>Introduction: </strong>Gonadal development and reproduction are under the control of the endocrine system, which acts along the brain-pituitary-gonad (BPG) axis. Besides well-known regulators of the BPG axis, such as the gonadotropin-releasing hormone, follicle-stimulating hormone, and luteinizing hormone, the anti-Müllerian hormone (Amh) came into the focus of research on the BPG axis. Amh is expressed differently in the gonads of dominant and subordinate Nile tilapia (Oreochromis niloticus) males and could be involved in the regulation of the differently developed gonads. In addition, the regulatory networks and the control of gene expression depend on microRNAs (miRNAs), an often not considered epigenetic mechanism in hormonal research.</p><p><strong>Methods: </strong>We used a long-term, stable social hierarchy of Nile tilapia males as an experimental system to identify differentially expressed (DE) miRNAs in the testes of dominant and subordinate animals. A Dual-Luciferase Reporter Assay and in vitro analysis of amh expression in primary testis cells were used to demonstrate predicted interactions.</p><p><strong>Results: </strong>We identified 23 DE miRNAs in the testes of dominant and subordinate males and predicted the targets in the pools of DE genes. Using these data, we placed the identified GO terms and KEGG pathways in the context of differently developed gonads under social control. The most DE miRNA, oni-miR-499, is upregulated in the testes of dominants and regulates amh expression.</p><p><strong>Conclusion: </strong>We conclude that oni-miR-499 affects testis development via amh expression in Nile tilapia. Many miRNAs and biological processes identified in our study could be conserved mechanisms of testis development.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"10-31"},"PeriodicalIF":2.4,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12165630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144024744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
An Unusual Case of a Monorchid Horse with an Abdominally Retained Testicle. 罕见的蒙兰马腹部保留睾丸的病例。
IF 2.4 4区 医学
Sexual Development Pub Date : 2025-04-08 DOI: 10.1159/000545559
Matthew Sinovich, Josep Monné Rodriguez, Aldona Pieńkowska-Schelling, Claude Schelling, Padraig G Kelly
{"title":"An Unusual Case of a Monorchid Horse with an Abdominally Retained Testicle.","authors":"Matthew Sinovich, Josep Monné Rodriguez, Aldona Pieńkowska-Schelling, Claude Schelling, Padraig G Kelly","doi":"10.1159/000545559","DOIUrl":"10.1159/000545559","url":null,"abstract":"<p><strong>Introduction: </strong>Monorchidism is a rarely described condition in the horse and is not to be confused with cryptorchidism. The diagnosis is challenging and confirmed by surgery and histology in combination with hormonal assays. This report describes, to the best of the author's knowledge, the first case of monorchidism and abdominal cryptorchidism of the developed testicle in a horse.</p><p><strong>Methods: </strong>An Irish Cob underwent laparoscopic castration for removal of bilateral cryptorchid testicles. At surgery, the horse was diagnosed as a monorchid with the testicle retained intra-abdominally. Histopathological, hormonal, molecular and cytogenetic analysis was performed. This included measuring testosterone and anti-Mullerian hormone (AMH) in serum blood, isolating genomic DNA from EDTA- and heparin-treated blood, PCR amplification of the SRY gene, metaphase chromosome preparation, and DAPI banding before metaphase analysis with fluorescence in situ hybridisation (FISH) analysis.</p><p><strong>Results: </strong>The horse was positive for the SRY gene and had a mosaic 63,X/64,XY karyotype with the aneuploid cells being present in only 2% of metaphases. FISH showed that the missing sex chromosome of the aneuploid cell line was the Y chromosome embedded in micronuclei. An abnormal high rate of micronuclei (6.6%) was observed indicating genotoxic events and/or genome instability. Hormonal assay results confirmed that AMH was not significantly increased, suggesting that no further testicular tissue was present. Histopathology was consistent with testicular tissue displaying a Sertoli cell-only pattern with bipolar ductal structures.</p><p><strong>Conclusion: </strong>The exact causes of monorchidism and cryptorchidism are unclear, but the elevated rate of micronuclei is clear evidence for genome instability which might have been involved in the failure of normal testicular development and descent. Future cases could further clarify the disease mechanism based on this report.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"1-9"},"PeriodicalIF":2.4,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12119058/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
46,XX Testicular/Ovotesticular Disorders of Sexual Development: A Single-Center Retrospective Experience. 46、XX睾丸/卵睾丸DSD:单中心回顾性研究。
IF 2.4 4区 医学
Sexual Development Pub Date : 2025-01-01 Epub Date: 2025-10-29 DOI: 10.1159/000549171
Mariana Costanzo, María Celeste Mattone, Roxana Marino, Esperanza Berensztein, María Sol Touzón, María Marcela Bailez, Vanina Nielsen, Santiago Weller, María Laura Galluzzo Mutti, María Belén Martínez, Valeria Bulgach, Cecilia Zunana, Pablo Cesar Ramírez, Natalia Pérez Garrido, Juan Manuel Lazzati, Marta Ciaccio, Alicia Belgorosky, Gabriela Guercio
{"title":"46,XX Testicular/Ovotesticular Disorders of Sexual Development: A Single-Center Retrospective Experience.","authors":"Mariana Costanzo, María Celeste Mattone, Roxana Marino, Esperanza Berensztein, María Sol Touzón, María Marcela Bailez, Vanina Nielsen, Santiago Weller, María Laura Galluzzo Mutti, María Belén Martínez, Valeria Bulgach, Cecilia Zunana, Pablo Cesar Ramírez, Natalia Pérez Garrido, Juan Manuel Lazzati, Marta Ciaccio, Alicia Belgorosky, Gabriela Guercio","doi":"10.1159/000549171","DOIUrl":"10.1159/000549171","url":null,"abstract":"<p><p><p>Background: 46,XX testicular/ovotesticular disorders of sexual development (T/OT DSD) are infrequent congenital conditions characterized by the presence of functional ovarian and testicular or only testicular parenchyma.</p><p><strong>Objective: </strong>The aim of the study was to retrospectively describe clinical, hormonal, and genetic characteristics of 29 patients with 46,XX T/OT DSD (2000-2023), focusing on gonadal function, hormonal production, and long-term follow-up.</p><p><strong>Results: </strong>Most patients (n = 25, 86.2%) presented with atypical genitalia that suggested DSD. Median age at first assessment was 0.38 years. Sex assignment was male in 21 patients without reports of discordant gender identity. Sex assignment was recommended before expert evaluation and without adequate studies in 64% of those patients with atypical genitalia (16/25). The median external masculinization score was 8 (range 4-12). During mini-puberty, LH, testosterone, AMH, and the LH/FSH ratio were above the female reference range and no different from the normal male reference range. Spontaneous puberty was observed in one female and 10 male-assigned subjects. Among the latter, pubertal virilization occurred with signs of hypergonadotropic hypogonadism and gynecomastia. Molecular studies identified the underlying mechanism in 7 patients: SRY gene was identified in two, WT1 gene variations were detected in three others, and 2 syndromic patients harbored complex chromosomal rearrangements.</p><p><strong>Conclusion: </strong>Our findings underscore the clinical and biochemical variability in 46,XX T/OT DSD. Expert evaluation and accurate diagnostic work-up are essential prior to sex assignment and to prevent misdiagnosis and inappropriate treatments. Mini-puberty was characterized by a masculinized pattern of gonadotropin secretion. The potential for functional male pubertal development should be taken into account when making sex assignment decisions. </p>.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"64-74"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12680394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Sexual Dimorphic Expression of Dmrt1 in Adult Japanese Gecko (Gekko japonicus). Dmrt1在成年日本壁虎中的两性二态表达。
IF 2.4 4区 医学
Sexual Development Pub Date : 2025-01-01 Epub Date: 2025-10-20 DOI: 10.1159/000548987
Jung Ping, Jianyu Jin, Shuran Li, Weiguo Du, Yongpu Zhang
{"title":"Sexual Dimorphic Expression of <i>Dmrt1</i> in Adult Japanese Gecko (<i>Gekko japonicus</i>).","authors":"Jung Ping, Jianyu Jin, Shuran Li, Weiguo Du, Yongpu Zhang","doi":"10.1159/000548987","DOIUrl":"10.1159/000548987","url":null,"abstract":"<p><p><p>Introduction: The Dmrt1 gene is essential for sex determination and gonadal development across vertebrates. Despite its established role in model species, its functional dynamics and seasonal regulatory patterns remain uncharacterized in Gekko japonicus, a key species for understanding reptilian reproductive strategies. This study thus aimed to (1) elucidate its structural characteristics, (2) analyze seasonal expression profiles and sexual dimorphism of Dmrt1, and (3) define its physiological roles in reproductive cyclicity.</p><p><strong>Methods: </strong>Total RNA was extracted from adult G. japonicus testes, and the full-length Dmrt1 transcript was obtained through 3' and 5' RACE. Bioinformatics predicted its properties, and phylogenetic analysis was conducted using PhyloSuite v1.2.3. RT-qPCR evaluated gjDmrt1 expression in male and female tissues and gonads.</p><p><strong>Results: </strong>The gjDmrt1-encoded protein is a hydrophilic nuclear protein with a conserved 54-amino acid DM domain, exhibiting high conservation among vertebrates. RT-qPCR shows significant differential expression in male tissues, sex dimorphism favoring males, and expression peaks in April with notable periodic fluctuations.</p><p><strong>Conclusion: </strong>This study offers critical insights into the characterization of the Dmrt1 gene in G. japonicus. The findings underscore its significant role in seasonal reproductive regulation and provide essential information for further investigation into the interactions between Dmrt1 and other candidate genes associated with gonad differentiation, as well as its regulatory mechanisms across varying environmental conditions. </p>.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"39-50"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659661/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145349602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书