ArticleThe Journal of clinical endocrinology and metabolism2015
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
Article in The Journal of clinical endocrinology and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers.
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Who cites it
97 citing papers in PubMed.
- Clinical features and genetic analysis of androgen receptor gene variants in 30 prepubertal patients with androgen insensitivity syndrome.Asian journal of andrology · 2026Article
- Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis.BMC medical genomics · 2026Article
- The potential of deep learning on the discovery of new genes implicated in differences of sex development.Computational and structural biotechnology journal · 2026Article
- Article
- STARD9 and CDK5RAP2-Novel Candidate Genes for 46,XY Complete Gonadal Dysgenesis.International journal of molecular sciences · 2025Article
- Review
- A novel CUL4B gene variant activating Wnt4/β-catenin signal pathway to karyotype 46, XY female with disorders of sex development.Biological research · 2025Article
- Novel non-synonymous and synonymous gene variants of SRD5A2 in patients with 46,XY-DSD and DSD-free subjects.PloS one · 2025Article
- Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing.Frontiers in endocrinology · 2025Article
- Sex Assignment in Cases of Ambiguous Genitalia.Cureus · 2024Review
- Evidence for NR2F2/COUP-TFII involvement in human testis development.Scientific reports · 2024Article
- Cytogenomic description of a Mexican cohort with differences in sex development.Molecular cytogenetics · 2024Article
- Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development.Molecular genetics & genomic medicine · 2024Article
- Article
- Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants.Case reports in pediatrics · 2024Article
- Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.Frontiers in genetics · 2024Review
- Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.EBioMedicine · 2024Article
- Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.Journal of endocrinological investigation · 2023Article
- Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development.Diagnostics (Basel, Switzerland) · 2023Article
- Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.Nature communications · 2023Article
37 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors.
Funding
Abstract
contextDisorders of sex development (DSD) are clinical conditions where there is a discrepancy between the chromosomal sex and the phenotypic (gonadal or genital) sex of an individual. Such conditions can be stressful for patients and their families and have historically been difficult to diagnose, especially at the genetic level. In particular, for cases of 46,XY gonadal dysgenesis, once variants in SRY and NR5A1 have been ruled out, there are few other single gene tests available.
objectiveWe used exome sequencing followed by analysis with a list of all known human DSD-associated genes to investigate the underlying genetic etiology of 46,XY DSD patients who had not previously received a genetic diagnosis.
designSamples were either submitted to the research laboratory or submitted as clinical samples to the UCLA Clinical Genomic Center. Sequencing data were filtered using a list of genes known to be involved in DSD.
resultsWe were able to identify a likely genetic diagnosis in more than a third of cases, including 22.5% with a pathogenic finding, an additional 12.5% with likely pathogenic findings, and 15% with variants of unknown clinical significance.
conclusionsEarly identification of the genetic cause of a DSD will in many cases streamline and direct the clinical management of the patient, with more focused endocrine and imaging studies and better-informed surgical decisions. Exome sequencing proved an efficient method toward such a goal in 46,XY DSD patients.
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