ArticleMolecular biology reports2019
Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis.
Article in Molecular biology reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Disorders of sex development: Genetic characterization of a patient cohort.Molecular medicine reports · 2020Trial
- Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report.Frontiers in endocrinology · 2026Article
- Review
- 46,XY disorders of sex development and muscular dystrophy caused by Xp21 duplication: a case report and literature review.Translational pediatrics · 2024Article
- Article
- Expanding the phenotype of copy number variations involving NR0B1 (DAX1).European journal of human genetics : EJHG · 2024Article
- A Risk of Gonadoblastoma in Familial Swyer Syndrome-A Case Report and Literature Review.Journal of clinical medicine · 2024Review
- Neglected Adrenal Hypoplasia Congenita in Two Siblings with Novel Genetic Mutations in NR0B1 Gene and Notable Clinical Course: A Case Report.Endocrine, metabolic & immune disorders drug targets · 2024Article
- Testicular differentiation in 46,XX DSD: an overview of genetic causes.Frontiers in endocrinology · 2024Review
- The use ofSystems biology in reproductive medicine · 2023Article
- Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis.Journal of medical genetics · 2023Article
- Bilateral Gonadal Dysgerminoma in a Phenotypic Female With 46,XY Disorder of Sexual Development: A Case Report.Cureus · 2023Article
- Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal DysgenesisJournal of clinical research in pediatric endocrinology · 2023Article
- Case report: Clinical characteristics and treatment of secondary osteoporosis induced by X-linked congenital adrenal dysplasia.Frontiers in endocrinology · 2022Article
- Becoming female: Ovarian differentiation from an evolutionary perspective.Frontiers in cell and developmental biology · 2022Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, possibly inherited of maternal gonadal mosaicism. Copy number variation and functional effects of the duplication were done by MLPA multiplex ligation-dependent probe amplification and real time PCR. DAX-1, also known as dosage sensitive sex reversal gene (DSS), is considered the most likely candidate gene involved in XY gonadal dysgenesis when overexpressed. The excess of DAX-1 gene disturbs testicular development by down regulation of SF-1, WT1, and SOX9. This is the first report of 46,XY sex reversal in two siblings who have a maternally inherited duplication of DAX-1 associated with reduced levels of expression of downstream genes as SOX9-SF1.
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