Sexual Development最新文献

{"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}

{"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}

{"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><p><p>Introduction: 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>.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"1-9"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","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}

{"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":1.8,"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}

{"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":1.8,"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}

{"title":"Differentially Expressed MicroRNAs in Testes of Dominant and Subordinate Nile Tilapia Males and Identification of Oni-miR-499 as Regulator of <i>amh</i> 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><p><p>Introduction: 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>.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"10-31"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","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}

{"title":"Maternal Microchimerism Is Uncommon in Patients with Hypospadias.","authors":"Yuki Muranishi, Yuko Katoh-Fukui, Masafumi Kon, Nobuhiko Koga, Satoshi Tamaoka, Atsushi Hattori, Nobuo Shinohara, Takashige Abe, Maki Fukami","doi":"10.1159/000549218","DOIUrl":"10.1159/000549218","url":null,"abstract":"<p><p><p>Introduction: Although maternal microchimerism has been implicated in various disorders in children, its association with the risk of 46,XY disorders of sex development remains unknown.</p><p><strong>Methods: </strong>We studied 22 boys with hypospadias using highly sensitive quantitative PCR assays. In seven cases with additional anomalies, microarray-based comparative genomic hybridization and whole-exome sequencing confirmed the lack of apparent pathogenic variants.</p><p><strong>Results: </strong>Maternal microchimeric cells were detected in 2 patients (1.9 and 32.0 cells per 106 total cells). The results were comparable to our reference data.</p><p><strong>Conclusion: </strong>This study argues against the significant role of maternal microchimerism in the risk of hypospadias. </p>.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"51-55"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145394737","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}

{"title":"Rare Genetic Variants of Cell Adhesion Molecules in Transgender Men Suggest a Potential Role in Gender Dysphoria.","authors":"Duygu Onur Cura, Tufan Çankaya, Özden Altiok Clark, Leyla Rezan Aydin, Ahmet Okay Çağlayan, Ayfer Ülgenalp","doi":"10.1159/000549011","DOIUrl":"10.1159/000549011","url":null,"abstract":"<p><p><p>Introduction: Transgender identity is a complex and multifactorial condition shaped by the effects of environmental and cultural factors as well as its biological basis. Genes involved in neurodevelopment and neuroplasticity may contribute to brain sexual differentiation, and rare variants in these genes could play a role in gender diversity. This study aimed to enhance explanations for the genetic component of transgender identity.</p><p><strong>Methods: </strong>After the filtering process applied to the WES analysis data obtained from eight transgender men (TM), the gene list was generated. Previously reported genes were scanned in the gene list with a detailed literature review and data mining. Functional enrichment, protein classification, pathway, and genetic interaction network analysis were performed to determine the salient genes.</p><p><strong>Results: </strong>A total of 30 variants were detected in 18 genes reported in the literature. The rs879121178 (GOLGA8J) variant, previously reported in 1 TW (transgender woman) and 1 TM, and the rs548940626 (PCDHA8) variant, previously reported in 1 TW, were present in two different individuals (individuals 5 and 6, respectively). In the functional enrichment analysis, the highest enrichment score in biological processes was detected in the cluster related to cell adhesion (enrichment score: 12.91) and the most enriched term was \"homophilic cell adhesion via plasma membrane adhesion molecules\" with 54 genes (p: 3.1E-11).</p><p><strong>Conclusions: </strong>Our study shows that rare variants in cell adhesion genes, previously reported in TW, are also prominent in TM. These findings may help guide further investigations into genes that could be relevant to neurodevelopmental pathways, including those involved in brain sexual differentiation. </p>.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"56-63"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12674652/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145483423","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}

{"title":"Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a <italic>SEMA3E</italic> Loss-of-Function Variant.","authors":"Somboon Wankanit, Maëva Elzaiat, Estelle Talouarn, Laurène Schlick, Anu Bashamboo, Ken McElreavey, Raja Brauner","doi":"10.1159/000549385","DOIUrl":"10.1159/000549385","url":null,"abstract":"<p><p><p>Introduction: SEMA3E is a secreted class 3 semaphorin that, in mice, plays roles in neuronal guidance, cardiovascular morphogenesis, angiogenesis, and vascular homeostasis. Adult male mice lacking SEMA3E exhibit reduced testicular size compared to wild-type littermates, indicating a potential role in reproductive function. In humans, heterozygous missense variants in SEMA3E were initially reported to be associated with CHARGE syndrome and hypogonadotropic hypogonadism with anosmia. However, these associations have since been questioned, and the contribution of SEMA3E variants to human disease is unclear.</p><p><strong>Methods: </strong>We describe the results of exome sequencing of a 46,XY boy with unexplained bilateral testicular regression syndrome and optic nerve atrophy.</p><p><strong>Results: </strong>Exome sequencing indicates that he carries a heterozygous frameshift variant (c.942del, p.Leu314PheTer11) in the SEMA3E gene. The variant is located within the functional SEMA domain of the protein and is predicted to trigger nonsense-mediated mRNA decay. This is the second reported loss-of-function (LoF) variant in the highly conserved SEMA3E gene. A previously described LoF variant was identified in a child presenting with severe intellectual disability and cognitive regression.</p><p><strong>Conclusion: </strong>LoF SEMA3E variants may be associated with a broad and variable spectrum of clinical phenotypes. </p>.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"75-80"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12685326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534944","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}

{"title":"<i>SOX9</i> Gene Variants in 27 French Bulldogs with Disorder of Sex Development (XX, <i>SRY</i>-Negative): Identification of First Case of Skeletal Abnormalities Associated with <i>SOX9</i> 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 Apos Anza, Izabela Szczerbal, Marek Switonski","doi":"10.1159/000548218","DOIUrl":"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 20 with abdominal, spermatogenetically inactive testes, three with inactive testis and ovotestis, one with inactive testis and ovary, and one with ovotestes; in two dogs, analysis of gonads 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":"32-38"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","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}