Sexual Development最新文献

{"title":"Somatic Cells in the Anuran Testis.","authors":"Maria Ogielska, Beata Rozenblut-Koscisty, Katarzyna Haczkiewicz-Lesniak, Magdalena Chmielewska","doi":"10.1159/sxd/aerag003","DOIUrl":"https://doi.org/10.1159/sxd/aerag003","url":null,"abstract":"<p><strong>Background: </strong>The anuran testis is a heterogeneous organ composed of germline and somatic cells mainly derived from the coelomic epithelium (Sertoli cells) and mesonephros (Leydig cells), which together regulate spermatogenesis and testicular architecture.</p><p><strong>Summary: </strong>We provide an integrative overview of the developmental origin, structure, and function of somatic cells in evolutionary primitive and advanced anurans, with comparisons to other vertebrates. Initially bipotential gonad differentiates into testes by forming seminiferous cords and tubules composed of gonocytes and Sertoli cells, and a peritubular compartment containing Leydig cells. A distinctive feature of anurans is the continued proliferative capacity of Sertoli cells and their ability to form cysts in which spermatogenesis occurs within adult seminiferous tubules. Although key genes involved in testis differentiation are broadly conserved across vertebrates, their timing and functional roles often differ in anurans, where gonadal development is strongly influenced by steroid hormones, a feature typical of anamniotes.</p><p><strong>Key messages: </strong>Vertebrate testes are homologous and share a basic organizational plan, differing mainly in cystic spermatogenesis in anamniotes versus tubular spermatogenesis in amniotes. While somatic cell lineages are largely conserved, anurans exhibit increased complexity in molecular regulatory pathways and remain understudied with respect to the developmental origins of specific cell populations.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"1"},"PeriodicalIF":1.8,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148851950","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":"Double heterozygous PROK2 p.(Ile55Ter)-PROKR2 p.(Arg85Leu) variants: case report of an oligogenic case of congenital hypogonadotropic hypogonadism with anosmia.","authors":"Mariela Urrutia, Franco Gino Brunello, Lorena Minaberry, Gabriela Sansó, Lourdes Correa Brito, Romina P Grinspon, Marcelo Martí, Rodolfo A Rey","doi":"10.1159/sxd/aerag002","DOIUrl":"https://doi.org/10.1159/sxd/aerag002","url":null,"abstract":"<p><strong>Introduction: </strong>Delayed puberty in males requires differentiation between self-limited delay and congenital hypogonadotropic hypogonadism (CHH), including Kallmann syndrome (KS).</p><p><strong>Case presentation: </strong>We report an adolescent male presenting with delayed puberty and anosmia, consistent with KS. Hormonal evaluation confirmed CHH, and MRI demonstrated olfactory bulb agenesis. Targeted next-generation sequencing identified two heterozygous variants in functionally related genes: a pathogenic nonsense variant in PROK2 and a missense variant in PROKR2 classified as a variant of uncertain significance. Given their ligand-receptor relationship, oligogenic analysis was performed. The variant combination was prioritized as highly likely disease-causing by ORVAL/VarCoPP and further supported by OLIDA-based interpretation, providing objective evidence for digenic inheritance. Parental segregation confirmed trans inheritance.</p><p><strong>Conclusion: </strong>To our knowledge, this is the first report with objective support for the high likelihood of the existence of a digenic etiology in a patient with CHH, based on the use of OLIDA, which provides a standardized framework for the interpretation of oligogenic combinations. These findings highlight the contribution of multilocus variation to CHH and underscore the need for standardized approaches to interpret oligogenic mechanisms in clinical practice.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"1"},"PeriodicalIF":1.8,"publicationDate":"2026-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148680912","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":"Genetic, endocrine and epigenetic mechanisms underlying sexual size dimorphism in fish.","authors":"Silvia Beato, Gabriel Ecker-Eckhofen, Changwei Shao, Francesc Piferrer","doi":"10.1159/000550574","DOIUrl":"https://doi.org/10.1159/000550574","url":null,"abstract":"<p><p>Background Sexual size dimorphism (SSD), i.e., size difference between sexes, is common in fishes and spans from negligible to extreme body size differences, with both female‑ and male‑biased directions. While evolutionary drivers behind SSD such as sexual selection, fecundity selection and natural selection are increasingly well understood, our understanding of the underlying mechanisms of how sex‑specific growth trajectories develop is less clear. Summary Here we review recent findings of such mechanisms in fishes and reveal that SSD arises from an interplay of sex-linked and autosomal genetic factors. In teleosts, master sex-determining genes and growth regulators such as dmrt1/dmY, sdY, amhr2by, gdf6Y and gsdfY play key roles, while quantitative trait loci (QTL) influence growth and maturation, further contributing to SSD. Essential sex-specific regulation of hormones across brain, pituitary, liver and gonad determines SSD directionality. Epigenetic mechanisms, such as DNA methylation and non-coding RNA further modulate gene expression in growth and reproductive pathways. We identify the basic mechanisms, highlight knowledge gaps, and propose that multi-omics approaches can disentangle sex effects from dimorphism-specific regulation, linking together endocrine, genetic and epigenetic drivers. Key Messages 1. At the mechanistic level, SSD results from an interplay of genetic, endocrine and environmental influences. 2. Sex chromosomes and autosomal loci form the genetic architecture that shapes growth differences between males and females. 3. The somatotropic axis, involving GH/IGF signaling, together with the actions of sex steroids, serves as a central effector system underlying SSD in fish. 4. Epigenetic mechanisms help establish and maintain sex-specific gene expression programs, but integrative multi‑omic approaches are needed to uncover causal relationships and phenotypic plasticity in SSD.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"1-20"},"PeriodicalIF":2.4,"publicationDate":"2026-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146031483","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":"Differences in Early Development between Parental Species and Asexual Hybrids forms of European Spined Loaches (Genus <i>Cobitis</i>).","authors":"Alena Zikmundová, Grzegorz Skórzewski, Roman Franěk, Tomáš Tichopád, Oldřich Bartoš, Daniel Kulik, Martin Pšenička, Jan Kotusz, Karel Janko","doi":"10.1159/000552676","DOIUrl":"10.1159/000552676","url":null,"abstract":"<p><strong>Introduction: </strong>Hybridization and polyploidy are increasingly recognized as major drivers of evolutionary innovation. By merging and multiplying genomes, they induce profound regulatory and structural perturbations that can alter phenotypes, yet the mechanisms by which they influence development remain debated. In particular, while theory predicts that polyploidy increases cause the increase in cell size, resulting in slower development, empirical findings are mixed. Moreover, the independent effects of polyploidization and hybrid genome admixture on early ontogeny are rarely disentangled. Here, we used the Cobitis taenia-C. elongatoides hybrid complex, a natural system comprising two sexual diploids and both diploid and triploid asexual hybrids to investigate how hybridization and polyploidy affect early development.</p><p><strong>Methods: </strong>We examined two key developmental processes: (1) the timing of embryonic progression from the first cleavage to somitogenesis and (2) migration of primordial germ cells (PGCs), which are crucial for reproductive competence. By comparing both hybrid types to each of their sexual progenitors, we were able to isolate the effects of genome merging versus genome multiplication.</p><p><strong>Results: </strong>We found distinct developmental delays linked to effects of the parental genome, hybridization, and ploidy. Initial cleavage dynamics was mostly attributable to differences between the two parental species, while later delays were more pronounced in hybrids, regardless of ploidy, highlighting hybridization-driven developmental shifts. Only at subsequent stages did ploidy-specific effects emerge, prolonging development in triploids against all diploid forms. In contrast, PGC number and migration were primarily influenced by ploidy, with triploids showing higher PGC counts than diploids.</p><p><strong>Conclusion: </strong>Our findings reveal that hybridization and polyploidy exert both independent and interactive effects on early ontogeny. The Cobitis complex thus offers a powerful model for exploring developmental consequences of genome restructuring.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"111-128"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13498317/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148377726","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":"Canine XX Disorders/Differences of Sex Development (SRY-Negative): A Potential Role for the <i>FOXL2</i> Gene.","authors":"Paulina Krzeminska","doi":"10.1159/000553153","DOIUrl":"10.1159/000553153","url":null,"abstract":"<p><strong>Background: </strong>Disorders/differences of sex development (DSDs) comprise a group of congenital conditions characterized by atypical gonadal and/or anatomical development of the reproductive system. Among them, XX DSD (SRY-negative) represents a rare but clinically relevant condition, defined by the presence of testicular or ovotesticular tissue in chromosomal females lacking the SRY gene. This phenotype has been described in humans and several domestic species, including dogs, cats, and goats.</p><p><strong>Summary: </strong>Over the past decades, studies in dogs with 78,XX DSD (SRY-negative) have primarily focused on identifying causative mutations in candidate genes, particularly in SOX9. However, only a limited number of cases have been associated with SOX9 copy number variations, suggesting that additional genetic factors remain to be identified. In contrast, FOXL2, a key regulator of ovarian development and maintenance, has been relatively underexplored in canine studies. Functional evidence from mouse models highlights the importance of FOXL2 in ovarian differentiation and maintenance, as well as in craniofacial and skeletal development. 78,XX DSD has been increasingly reported in French Bulldogs, a breed predisposed to craniofacial and ocular abnormalities.</p><p><strong>Key messages: </strong>Current evidence indicates that FOXL2 is a biologically plausible candidate gene for 78,XX DSD in dogs, although no causative variants have yet been identified. The observed cryptic relatedness among affected French Bulldogs suggests a shared genetic background. Future studies should include comprehensive sequencing of FOXL2, particularly its GC-rich coding regions, together with detailed clinical phenotyping. Integrating molecular and clinical data may improve understanding of the genetic basis of XX DSD and support more informed breeding strategies.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"102-110"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13480975/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148387975","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":"Functional Validation of a Novel <italic>PBX1</italic> Missense Variant in a 46,XY Girl.","authors":"Meng-Che Tsai, Yun-Han Weng, Yi-Chieh Wang, Yen-Yin Chou, Kung-Chao Chang, Peng-Chieh Chen","doi":"10.1159/000550575","DOIUrl":"10.1159/000550575","url":null,"abstract":"<p><strong>Introduction: </strong>The pre-B-cell leukemia transcription factor encoded by PBX1 is expressed throughout human embryonic stages. Accumulating cases with differences of sex development (DSDs) have been reported harboring PBX1 variants, suggesting a yet elusive role of PBX1 in the gonadal differentiation and sexual development processes.</p><p><strong>Methods: </strong>We report a syndromic case of 46,XY DSD presenting severely undervirilized genitalia and gonadal dysgenesis with mixed ovarian and testicular differentiation, where whole-exome sequencing analysis identified a novel missense variant c.710G>C (p.R237T) in the highly conserved nuclear localization sequence in the three-amino acid loop extension domain of PBX1.</p><p><strong>Results: </strong>Compared with wild-type (WT) PBX1, PBX1 p.R237T reduced protein stability and hampered nuclear translocation of PBX1 in the inducible Flp-In TREx HEK293 cells. Induction with tetracycline significantly decreased cell proliferation in both Flp-In HEK293 PBX1 WT and p.R237T cells compared to untransfected HEK293 cells, while adhesive ability was not different. RNA sequencing identified differentially expressed genes in DSD-related genes, including MAP3K4, EMX2, KISS1R, and HOXA13 in cells expressing PBX1 p.R237T when compared to cells expressing WT PBX1.</p><p><strong>Conclusion: </strong>Altogether, our results demonstrated the deleterious functional consequences of the rare PBX1 p.R237T variant identified in a Taiwanese proband with 46,XY DSD.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"45-57"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13043130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147311962","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":"XX/XY Chimerism in Tortoiseshell Tomcats: A New Case and Review of the Literature.","authors":"Izabela Szczerbal, Joanna Nowacka-Woszuk, Marek Switonski","doi":"10.1159/000551472","DOIUrl":"10.1159/000551472","url":null,"abstract":"<p><strong>Introduction: </strong>Tortoiseshell coat color in cats typically occurs in females due to random X-chromosome inactivation, which affects the expression of the orange coat color gene. The presence of a tortoiseshell phenotype in male cats usually indicates an unusual sex chromosome constitution.</p><p><strong>Case presentation: </strong>A young Maine Coon tomcat with a normally developed penis was referred for genetic examination because of its tortoiseshell coat. At the age of 11 months, he successfully mated with a queen, which subsequently gave birth to five healthy kittens.</p><p><strong>Results: </strong>Cytogenetic analysis of chromosome preparations obtained from leukocyte cultures revealed the presence of 2 cell lines - XX and XY. Molecular studies were performed on DNA extracted from blood, hair follicles, and saliva using a ddPCR approach to estimate the ratio of Y- to X-chromosome copy numbers. These analyses confirmed the presence of both XX and XY cell lines in the tested tissues, with the highest proportion of the XX line detected in hair follicles.</p><p><strong>Conclusion: </strong>This study demonstrated that tortoiseshell tomcats with XX/XY chimerism can be fertile. Therefore, cytogenetic and molecular analyses of tri-colored male cats are recommended before making decisions regarding their use in breeding.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"68-74"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13160499/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147445733","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":"Ovarian-Specific FOXL2 Protein Expression in Testes from Patients with Complete Androgen Insensitivity Syndrome and Undescended Testes.","authors":"Katja P Wolffenbuttel, Hans Stoop, Remko Hersmus, Marij Dinkelman-Smit, Sabine E Hannema, Geert J H L van Leenders","doi":"10.1159/000550740","DOIUrl":"10.1159/000550740","url":null,"abstract":"<p><strong>Introduction: </strong>The transcription factors Forkhead box L2 (FOXL2) and SRY-box transcription factor 9 (SOX9), among others, are required for embryonic ovarian and testicular differentiation, respectively. In patients with complete androgen insensitivity syndrome (CAIS), the testes are usually undescended and may show histological changes similar to those sometimes seen in patients with undescended testes (UDT). The aim of this study was to explore the expression of FOXL2 and SOX9 in testes from patients with CAIS and UDT.</p><p><strong>Methods: </strong>Immunohistochemical staining with FOXL2 and SOX9 was performed on samples from 13 patients with CAIS and 20 with UDT.</p><p><strong>Results: </strong>In addition to nuclear SOX9 expression in intratubular Sertoli cells, FOXL2 expression was present in stromal cells in 8 of 9 patients with CAIS and in 1 of 20 with UDT. Moreover, FOXL2 expression was found in the rete testis in three of nine samples that included this region.</p><p><strong>Conclusion: </strong>Expression of the ovarian-specific marker FOXL2 in regions of the testes of patients with CAIS and UDT has not previously been documented and suggests partial activation of the female pathway within these testes. Further research is needed, including FOXL2 protein expression studies in larger series and molecular studies, e.g., transcriptome analysis, to understand the pathophysiology and clinical significance of these novel findings.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"36-44"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13004611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146114628","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":"<italic>WT1</italic> Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.","authors":"Gabby Atlas, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Peter I Hadiprajitno, Nurin Listyasari, Ardy Santosa, Achmad Zulfa Juniarto, David I Francis, Michele A O Apos Connell, Tiong Yang Tan, Elena Tucker, Sultana M H Faradz, Andrew Sinclair, Katie Ayers","doi":"10.1159/000551741","DOIUrl":"10.1159/000551741","url":null,"abstract":"<p><strong>Introduction: </strong>Diagnostic copy number variants (CNVs) have been detected in up to 30% of individuals with DSD. Tools have been developed to detect CNVs from exome/genome sequencing.</p><p><strong>Methods: </strong>Sequencing data from a cohort of individuals with DSD were re-analysed through a CNV-caller (Ximmer) after no diagnostic single nucleotide variants were identified through traditional sequencing analysis.</p><p><strong>Results: </strong>A deletion was identified for an individual with gonadal dysgenesis that encompassed all exons of the gene WT1.</p><p><strong>Conclusion: </strong>This case reinforces the role of CNV analysis as part of genomic analysis, which holds exciting potential for improving diagnostic rates in the future.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"95-101"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13293582/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147534158","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":"Identification of Novel and Known Variants in Epigenetic Genes Associated with Syndromic 46,XY Differences of Sex Development among Moroccan Patients.","authors":"Imane Cherkaoui, Saida Lhousni, Manal Elidrissi Errahhali, Majida Charif, Rim Amrani, Aziza Elouali, Sanae Allaoui, Mounia Elidrissi Errahhali, Meryem Ouarzane, Guy Lenaers, Adnane Sellam, Mohammed Bellaoui, Redouane Boulouiz","doi":"10.1159/000549398","DOIUrl":"10.1159/000549398","url":null,"abstract":"<p><strong>Introduction: </strong>46,XY differences of sex development (DSD) are conditions with extreme phenotypic and genetic heterogeneity. Therefore, their diagnosis remains a major challenge for both clinicians and geneticists. In this study, we aimed to identify the underlying genetic causes of DSD in a series of 3 Moroccan patients with syndromic 46,XY DSD recruited in the BRO Biobank.</p><p><strong>Case presentations: </strong>Methods: Karyotyping analysis was performed on peripheral blood samples using standard R banding techniques. SRY gene was analyzed using PCR amplification followed by Sanger sequencing. Whole exome sequencing (WES) was performed after unsuccessful conventional genetic analyses. Candidate variants were evaluated by segregation analysis and molecular modeling.</p><p><strong>Results: </strong>WES identified three pathogenic variants in genes encoding various components of the epigenetic machinery: in patient 1, a novel heterozygous frameshift variant c.4072dup (p.Glu1358GlyfsTer29) in the KAT6B gene associated with two clinically distinct syndromes (genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome) was detected; in patient 2, we identified a previously reported de novo heterozygous nonsense variant c.12943C>T (p.Gln4315Ter) in KMT2D responsible for Kabuki syndrome; in patient 3, WES revealed a novel heterozygous missense variant c.4056C>G (p.Phe1352Leu) in CHD7 responsible for CHARGE syndrome. We discuss the genotype-phenotype correlation in these syndromic 46,XY DSD and discuss the relevance of the epigenetic genes in sexual development.</p><p><strong>Conclusion: </strong>Our findings highlight the utility of WES in discriminating clinically overlapping syndromic 46,XY DSD to provide an accurate diagnosis, thus allowing better follow-up and appropriate patient management. In addition, our study enriched the mutational spectrum of syndromic 46,XY DSD and confirmed the genotype-phenotype correlations.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"20 1-6","pages":"26-35"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146159046","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}