ArticleEuropean journal of human genetics : EJHG2015
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 111 citations in OpenAlex.
- Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.European journal of human genetics : EJHG · 2019Trial
- Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease.Endocrine reviews · 2026Review
- Management of andrological disorders from childhood and adolescence to transition age: guidelines from the Italian Society of Andrology and Sexual Medicine (SIAMS) in collaboration with the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP) - part-2.Journal of endocrinological investigation · 2026Article
- Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development.Biology of sex differences · 2026Article
- The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal Expression.Human mutation · 2026Article
- Rare SRY-negative 46,XX disorder of sex development with male phenotype and ectopic gonads: a case report.Frontiers in endocrinology · 2026Article
- Neurocognitive function in males with 46,XX testicular difference of sex development.Orphanet journal of rare diseases · 2025Article
- Pregnancy in anVeterinary sciences · 2025Article
- Retrospective analysis of children with 46,XX testicular/ovotesticular DSD: a 10-year single-center experience.Frontiers in endocrinology · 2025Article
- Quantitative Proteomic Analysis Reveals Key Proteins Involved in Testicular Development of Yaks.International journal of molecular sciences · 2024Article
- 46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes.Frontiers in endocrinology · 2024Review
- Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.Frontiers in endocrinology · 2024Review
- Testicular differentiation in 46,XX DSD: an overview of genetic causes.Frontiers in endocrinology · 2024Review
- Copy Number Variations in Pancreatic Cancer: From Biological Significance to Clinical Utility.International journal of molecular sciences · 2023Review
- Genetic control of typical and atypical sex development.Nature reviews. Urology · 2023Review
- Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review.BMC medical genomics · 2022Review
- Transcriptional control of human gametogenesis.Human reproduction update · 2022Article
- Mammalian X-chromosome inactivation: proposed role in suppression of the male programme in genetic females.Journal of genetics · 2022Article
- Cellular fate of intersex differentiation.Cell death & disease · 2021Article
- Review
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Authors and funding
28 authors at 15 institutions in 4 countries.
Funding
Abstract
Duplications in the ~2 Mb desert region upstream of SOX9 at 17q24.3 may result in familial 46,XX disorders of sex development (DSD) without any effects on the XY background. A balanced translocation with its breakpoint falling within the same region has also been described in one XX DSD subject. We analyzed, by conventional and molecular cytogenetics, 19 novel SRY-negative unrelated 46,XX subjects both familial and sporadic, with isolated DSD. One of them had a de novo reciprocal t(11;17) translocation. Two cases carried partially overlapping 17q24.3 duplications ~500 kb upstream of SOX9, both inherited from their normal fathers. Breakpoints cloning showed that both duplications were in tandem, whereas the 17q in the reciprocal translocation was broken at ~800 kb upstream of SOX9, which is not only close to a previously described 46,XX DSD translocation, but also to translocations without any effects on the gonadal development. A further XX male, ascertained because of intellectual disability, carried a de novo cryptic duplication at Xq27.1, involving SOX3. CNVs involving SOX3 or its flanking regions have been reported in four XX DSD subjects. Collectively in our cohort of 19 novel cases of SRY-negative 46,XX DSD, the duplications upstream of SOX9 account for ~10.5% of the cases, and are responsible for the disease phenotype, even when inherited from a normal father. Translocations interrupting this region may also affect the gonadal development, possibly depending on the chromatin context of the recipient chromosome. SOX3 duplications may substitute SRY in some XX subjects.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.