ReviewNature reviews. Endocrinology2013
Disorders of sex development: new genes, new concepts.
Review in Nature reviews. Endocrinology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
75 citing papers in PubMed, 231 citations in OpenAlex.
- 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
- A hypomorphic SRD5A2 haplotype with a potential founder effect: composed of common variants in individuals with 5α-reductase type 2 deficiency from South China.Biology of sex differences · 2026Article
- Disorders of sex development associated with MPI and RSPH1 variants expand the phenotypic spectrum of CDG and PCD in Morocco.Molecular biology reports · 2026Article
- Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis.Molecular cytogenetics · 2025Article
- Prevalence of common autosomal recessive and X-linked conditions in pregnant women in Vietnam: a cross-sectional study.Scientific reports · 2025Article
- Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development.Annals of pediatric endocrinology & metabolism · 2025Article
- Swyer Syndrome: A diagnostic challenge.JBRA assisted reproduction · 2025Article
- Retrospective analysis of children with 46,XX testicular/ovotesticular DSD: a 10-year single-center experience.Frontiers in endocrinology · 2025Article
- Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.Biology of sex differences · 2024Article
- Histological observations and transcriptome analyses reveal the dynamic changes in the gonads of the blotched snakehead (Channa maculata) during sex differentiation and gametogenesis.Biology of sex differences · 2024Article
- Epigenetic control ofHeliyon · 2024Article
- Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development.Biology of sex differences · 2024Article
- Testicular differentiation in 46,XX DSD: an overview of genetic causes.Frontiers in endocrinology · 2024Review
- Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants.Case reports in pediatrics · 2024Article
- From Diagnosis to Treatment: Comprehensive Care by Reproductive Urologists in Assisted Reproductive Technology.Medicina (Kaunas, Lithuania) · 2023Review
- Variations in gender identity and sexual orientation of university students.Sexual medicine · 2023Article
- Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.Endocrine connections · 2023Article
- The use ofSystems biology in reproductive medicine · 2023Article
- Genetic control of typical and atypical sex development.Nature reviews. Urology · 2023Review
- Late Diagnosis of Swyer Syndrome in a Patient with Bilateral Germ Cell Tumor Treated with a Contraceptive Due to Primary Amenorrhea.International journal of environmental research and public health · 2023Article
15 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Formerly known as 'intersex' conditions, disorders of sex development (DSDs) are congenital conditions in which chromosomal, gonadal or anatomical sex is atypical. A complete revision of the nomenclature and classification of DSDs has been undertaken, which emphasizes the genetic aetiology of these disorders and discards pejorative terms. Uptake of the new terminology is widespread. DSDs affecting gonadal development are perhaps the least well understood. Unravelling the molecular mechanisms underlying gonadal development has revealed new causes of DSDs, although a specific molecular diagnosis is made in only ∼20% of patients. Conversely, identification of the molecular causes of DSDs has provided insight into the mechanisms of gonadal development. Studies of N-ethyl-N-nitrosourea mutagenesis in the mouse, and multigene diagnostic screening and genome-wide approaches, such as array-comparative genomic hybridization and next-generation sequencing, in patients with DSDs are accelerating the discovery of genes involved in gonadal development and DSDs. Furthermore, long-range gene regulatory mutations and multiple gene mutations are emerging as new causes of DSDs. Patients with DSDs, their parents and medical staff are confronted with challenging decisions regarding gender assignment, genital surgery and lifelong care. These advances are refining prognostic prediction and systematically improving the diagnosis and long-term management of children with DSDs.
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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.