Evidence map›Paper›PMID 42048305›Full record

ArticleSexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation2026

Cytogenomic Investigation of Individuals with Ovotesticular Difference of Sex Development.

Júlia Lima-Santos, Carolina Gama Nascimento-Vidoti, Gabriela Roldão Correia-Costa, Nilma Lúcia Viguetti Campos, Mara Sanches Guaragna, Flávia Marcorin de Oliveira, Beatriz Amstalden Barros, Marcio Lopes Miranda, Arthur Antolini Tavares, Gil Guerra-Junior and 3 more

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Article in Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Júlia Lima-SantosDepartment of Medical Genetics and Genomic Medicine, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Carolina Gama Nascimento-VidotiDepartment of Medical Genetics and Genomic Medicine, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Gabriela Roldão Correia-CostaDepartment of Medical Genetics and Genomic Medicine, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Nilma Lúcia Viguetti CamposDepartment of Medical Genetics and Genomic Medicine, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Mara Sanches GuaragnaDepartment of Medical Genetics and Genomic Medicine, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Flávia Marcorin de OliveiraDepartment of Medical Genetics and Genomic Medicine, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Beatriz Amstalden BarrosDepartment of Pediatrics, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Marcio Lopes MirandaDepartment of Surgery, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Arthur Antolini TavaresDepartment of Pathology, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Gil Guerra-JuniorDepartment of Pediatrics, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Andréa Trevas Maciel-GuerraDepartment of Medical Genetics and Genomic Medicine, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Helena Fabbri-ScalletLaboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering, Universidade Estadual de Campinas, São Paulo, Brazil.
Társis Paiva VieiraDepartment of Medical Genetics and Genomic Medicine, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil, tpvieira@unicamp.br.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionOvotesticular difference of sex development (OT-DSD) may result from chimerism, mosaicism, structural, or sequence variants. However, even after investigating all known causes, many individuals still lack an established etiology. This study aimed to perform cytogenomic investigation of individuals with OT-DSD.

methodsThe sample consisted of 15 individuals with OT-DSD. Methods included G-banding karyotype, chromosomal microarray analysis (CMA), optical genome mapping (OGM), and whole-genome sequencing (WGS).

resultsG-banding karyotype revealed chimerism in two individuals, mosaicism in one, and 47,XXY karyotype in another. One individual had a pericentric inversion at the X chromosome, with breakpoints mapped close to SOX3. Ten individuals had a normal karyotype, eight 46,XX, and two 46,XY. CMA, performed in 11, identified a duplication including the SOX3 gene in one 46,XX individual, and two duplications in a 46,XY individual, with breakpoints mapped by WGS, suggesting a complex rearrangement that could affect VAMP7 expression. OGM was performed in two individuals and WGS in nine individuals, which did not reveal additional relevant structural variants (SVs).

conclusionCytogenomic methods identified causative alterations in 5/15 (33.3%) individuals, underscoring the need to combine complementary approaches to detect and characterize SVs. In the remaining cases, the etiology was undetermined, emphasizing the need for further molecular investigations.

Indexed as

Ovotesticular Disorders of Sex DevelopmentFemaleHumansKaryotypingMaleAmbiguous genitaliaCandidate genesChromosomal abnormalitiesCopy number variationGenital developmentOvotesticular difference of sex developmentSex determination/differentiationStructural rearrangements

Identifiers

PMID42048305
PMCPMC13275052

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