ArticleEndocrine connections2019
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).
Article in Endocrine connections, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 98 citations in OpenAlex.
- Genetic and genomic insights into male reproductive tract development.Fertility and sterility · 2025Pooled it
- Phenotyping and hierarchical clustering in genetically unresolved DSD identifies distinct multisystem clinical subgroups-a DSDgene study.Journal of the Endocrine Society · 2026Article
- Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing.Orphanet journal of rare diseases · 2026Article
- Novel gene variants in a rare case of SRY-negative 46, XX male syndrome with bone marrow failure by whole exome sequencing.Blood science (Baltimore, Md.) · 2026Article
- Functional and structural characterization ofFrontiers in endocrinology · 2026Article
- Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Article
- Clinical Spectrum, Surgical Management, and Outcomes ofMedicina (Kaunas, Lithuania) · 2025Review
- Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report.The American journal of case reports · 2025Article
- Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients.Indian journal of pediatrics · 2025Article
- Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center.Children (Basel, Switzerland) · 2025Article
- Review
- Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development.Annals of pediatric endocrinology & metabolism · 2025Article
- Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.EBioMedicine · 2025Article
- Clinical utility of anti-Müllerian hormone in female children and adolescents.Hormones (Athens, Greece) · 2025Review
- Identification of a Rare Variant in theCase reports in genetics · 2025Article
- Current Diagnostic Approaches in the Genetic Diagnosis of Disorders of Sex DevelopmentJournal of clinical research in pediatric endocrinology · 2024Review
- Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in theDiagnostics (Basel, Switzerland) · 2024Article
- Article
- 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
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Disorders of sex development (DSDs) are a diverse group of conditions where the chromosomal, gonadal or anatomical sex can be atypical. The highly heterogeneous nature of this group of conditions often makes determining a genetic diagnosis challenging. Prior to next generation sequencing (NGS) technologies, genetic diagnostic tests were only available for a few of the many DSD-associated genes, which consequently had to be tested sequentially. Genetic testing is key in establishing the diagnosis, allowing for personalised management of these patients. Pinpointing the molecular cause of a patient's DSD can significantly impact patient management by informing future development needs, altering management strategies and identifying correct inheritance pattern when counselling family members. We have developed a 30-gene NGS panel, designed to be used as a frontline test for all suspected cases of DSD (both 46,XX and 46,XY cases). We have confirmed a diagnosis in 25 of the 80 patients tested to date. Confirmed diagnoses were linked to mutations in AMH, AMHR2, AR, HSD17B3, HSD3B2, MAMLD1, NR5A1, SRD5A2 and WT1 which have resulted in changes to patient management. The minimum diagnostic yield for patients with 46,XY DSD is 25/73. In 34/80 patients, only benign or likely benign variants were identified, and in 21/80 patients only variants of uncertain significance (VOUS) were identified, resulting in a diagnosis not being confirmed in these individuals. Our data support previous studies that an NGS panel approach is a clinically useful and cost-effective frontline test for patients with DSDs.
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