ReviewEuropean journal of endocrinology2018
GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’
Review in European journal of endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 2 of them syntheses that pooled it.
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.
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Who cites it
78 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Clinical practice guidelines for the management of differences of sex development in Japan.Endocrine journal · 2026Guideline
- 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
- Article
- Management of andrological disorders from childhood and adolescence to transition age: guidelines from the Italian Society of Andrology and Sexual Medicine (SIAMS) in collaboration with the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP) - part-2.Journal of endocrinological investigation · 2026Article
- Article
- Familial isolated 17,20-lyase deficiency in three siblings caused by a CYP17A1 mutation.Endocrinology, diabetes & metabolism case reports · 2026Article
- The emergence of multiple testicular cell lineages in human stem cell-derived testis-like organoids.Development (Cambridge, England) · 2026Article
- Temporal trends and projections in the global burden of congenital genitourinary anomalies from 1990 to 2021: A cross-sectional study.The Journal of international medical research · 2026Article
- Two Cases ofJCEM case reports · 2026Article
- Clinical practice guidelines for the management of differences of sex development in Japan.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Review
- <italic>WT1</italic> Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Article
- Androgen receptor mutations in familial androgen insensitivity syndrome: A metabolic reprogramming pathway to type 2 diabetes susceptibility.World journal of diabetes · 2025Review
- Prevalence of Differences of Sex Development Among Pediatric Endocrine Care Centers in Switzerland From 2000 to 2019.Journal of the Endocrine Society · 2025Article
- Article
- Differences of sex development.Nature reviews. Disease primers · 2025Review
- Review
- Role of the pediatrician in the initial management of a newborn with Differences of Sex Development or hypospadias.European journal of pediatrics · 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
- 46,XX Testicular Disorder of Sex Development (DSD) Presenting With Male Hypogonadism.JCEM case reports · 2025Article
18 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
Abstract
The differential diagnosis of differences or disorders of sex development (DSD) belongs to the most complex fields in medicine. It requires a multidisciplinary team conducting a synoptic and complementary approach consisting of thorough clinical, hormonal and genetic workups. This position paper of EU COST (European Cooperation in Science and Technology) Action BM1303 ‘DSDnet’ was written by leading experts in the field and focuses on current best practice in genetic diagnosis in DSD patients. Ascertainment of the karyotpye defines one of the three major diagnostic DSD subclasses and is therefore the mandatory initial step. Subsequently, further analyses comprise molecular studies of monogenic DSD causes or analysis of copy number variations (CNV) or both. Panels of candidate genes provide rapid and reliable results. Whole exome and genome sequencing (WES and WGS) represent valuable methodological developments that are currently in the transition from basic science to clinical routine service in the field of DSD. However, in addition to covering known DSD candidate genes, WES and WGS help to identify novel genetic causes for DSD. Diagnostic interpretation must be performed with utmost caution and needs careful scientific validation in each DSD case.
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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.