ReviewOrphanet journal of rare diseases2020
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).
Review in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
What it found
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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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood.Endocrine reviews · 2023Guideline
- Genome sequencing identifies monogenic causes in adults with metabolic diseases.Journal of the Endocrine Society · 2026Article
- Short-read genome sequencing at population scale: diagnostic insights from 2317 patients.European journal of human genetics : EJHG · 2026Article
- Genomic testing for RET in the clinic: UK and global perspective.Endocrine-related cancer · 2025Review
- Optimized Homologous Sequence Alignment for the Identification of CYP21A2 Variants in 21-Hydroxylase Deficiency Using Next-Generation Sequencing Technology.Risk management and healthcare policy · 2025Article
- Budget impact analysis of high-priced orphan medicinal products intended for the treatment of rare diseases in China: evidence from a densely populated metropolis of Chengdu.BMC health services research · 2024Article
- Role ofCurrent issues in molecular biology · 2024Review
- Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.Orphanet journal of rare diseases · 2024Article
- Review
- The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.Endocrine connections · 2022Article
- Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care.Journal of personalized medicine · 2022Article
- Genetic testing in pediatric endocrine pathology.Medicine and pharmacy reports · 2021Article
- Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome.Endocrine · 2021Review
- One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.Orphanet journal of rare diseases · 2021Article
- Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype.Frontiers in pediatrics · 2021Review
- Digital Health for Supporting Precision Medicine in Pediatric Endocrine Disorders: Opportunities for Improved Patient Care.Frontiers in pediatrics · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 9 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWith the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of inherited endocrine disorders has massively expanded. However, the rapid implementation of these new molecular tools in the diagnostic settings makes the interpretation of diagnostic data increasingly complex. MAIN BODY: This joint paper of the ENDO-ERN members aims to overview chances, challenges, limitations and relevance of comprehensive genetic diagnostic testing in rare endocrine conditions in order to achieve an early molecular diagnosis. This early diagnosis of a genetically based endocrine disorder contributes to a precise management and helps the patients and their families in their self-determined planning of life. Furthermore, the identification of a causative (epi)genetic alteration allows an accurate prognosis of recurrence risks for family planning as the basis of genetic counselling. Asymptomatic carriers of pathogenic variants can be identified, and prenatal testing might be offered, where appropriate.
conclusionsThe decision on genetic testing in the diagnostic workup of endocrine disorders should be based on their appropriateness to reliably detect the disease-causing and -modifying mutation, their informational value, and cost-effectiveness. The future assessment of data from different omic approaches should be embedded in interdisciplinary discussions using all available clinical and molecular data.
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Registered trials
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.