ReviewCurrent urology2020
Disorders of Sexual Development: Current Status and Progress in the Diagnostic Approach.
Review in Current urology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
30 citing papers in PubMed, 100 citations in OpenAlex.
- Characterizing 46,XY Differences of Sex Development: Novel Genetic Variants and Diagnostic Pitfalls in a Single-Center Cohort.Biochemical genetics · 2026Article
- Spectrum of disorders of sexual development in Duhok, Iraq (2012-2022): molecular and clinical profile with surgical outcomes.Hormone molecular biology and clinical investigation · 2026Article
- Differences in sex development among individuals with a female phenotype and an absent uterus: Diagnostic approach.The Journal of international medical research · 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
- Urological management in a pediatric patient with mixed gonadal dysgenesis.Urology case reports · 2026Article
- Ambiguous genitalia in a male patient misidentified as female, leading to inappropriate circumcision: A rare case report.Radiology case reports · 2025Article
- Molecular Characterization of Steroid 5 Alpha-Reductase 2 (SRD5A2) Gene Variant in Indian Patients with Disorder of Sexual Development.Archives of sexual behavior · 2025Article
- Leveraging research into sex differences and steroid hormones to improve brain health.Nature reviews. Endocrinology · 2025Review
- 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
- Identification of a Rare Variant in theCase reports in genetics · 2025Article
- Exploring diversity: a review of animal models for investigating variations in sex characteristics.Frontiers in pediatrics · 2025Review
- WT1-related disorders: more than Denys-Drash syndrome.Pediatric nephrology (Berlin, Germany) · 2024Review
- Cytogenomic description of a Mexican cohort with differences in sex development.Molecular cytogenetics · 2024Article
- Epigenetic control ofHeliyon · 2024Article
- Sex: the last real binary?Reproduction & fertility · 2024Article
- Case report: Rare heterozygous variant in theFrontiers in medicine · 2024Article
- Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.Journal of clinical laboratory analysis · 2024Article
- Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder.Case reports in endocrinology · 2024Article
- CDYL reinforces male gonadal sex determination through epigenetically repressingProceedings of the National Academy of Sciences of the United States of America · 2023Article
- Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Disorders of sexual development (DSD) are conditions with an atypical chromosomal, gonadal or phenotypic sex, which leads to differences in the development of the urogenital tract and different clinical phenotypes. Some genes have been implicated in the sex development during gonadal and functional differentiation where the maintenance of the somatic sex of the gonad as either male or female is achieved by suppression of the alternate route. The diagnosis of DSD requires a structured approach, involving a multidisciplinary team and different molecular techniques. We discuss the dimorphic genes and the specific pathways involved in gonadal differentiation, as well as new techniques for genetic analysis and their diagnostic value including epigenetic mechanisms, expanding the evidence in the diagnostic approach of individuals with DSD to increase knowledge of the etiology.
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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.