ArticleFrontiers in pediatrics2025
Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development.
Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Spectrum and clinical profile of disorders of sex development: A 10 year experience at a tertiary care center.Pakistan journal of medical sciences · 2026Article
- A Case of Disorder of Sex Development in Red Deer (<italic>Cervus elaphus</italic>).Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Article
- Gene therapy for disorders of sex development: current applications and future challenges.Frontiers in genetics · 2025Review
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Authors and funding
7 authors.
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Abstract
Objective: A firm diagnosis revealing the etiology of disorders/differences of sex development (DSD) is most helpful in guiding clinical management. The aim of this study is to investigate molecular genetic diagnoses and surgical treatment in a cohort of children with 46,XY DSD. Methods: A retrospective study was conducted on children with 46,XY DSD. They were referred to a tertiary surgical center during the period between 2011 and 2022 and were found to have genetic alterations, which were considered etiologies for their DSD. Data on clinical presentations, sex of rearing, genetic findings, surgical treatment, and comorbidities were collected and reviewed. Results: A total of 21 patients were included in the study: 11 and 10 were reared as male and female, respectively. Genetic alterations were found as the causes for androgen insensitivity syndrome ( Conclusions: Molecular genetic diagnosis enhances the understanding of etiology, improves diagnostic accuracy, and provides precise guidance in the counseling and surgical management of children with 46,XY DSD.
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