ArticleEndocrine connections2017
Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome.
Article in Endocrine connections, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 24 citations in OpenAlex.
- [Clinical polymorphism of primary hyperparathyroidism in children].Problemy endokrinologii · 2025Observational
- [Genetic profiling of parathyroid tumours: lifting the veil of mystery].Problemy endokrinologii · 2025Review
- Analysis of Bone Phenotype Differences in MEN1-Related and Sporadic Primary Hyperparathyroidism Using 3D-DXA.Journal of clinical medicine · 2024Article
- Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum ofInternational journal of molecular sciences · 2024Review
- [Primary hyperparathyroidism in children].Problemy endokrinologii · 2023Observational
- Article
- Familial parathyroid tumours-comparison of clinical profiles between syndromes.Journal of endocrinological investigation · 2023Article
- Denosumab for osteoporosis in patients with primary hyperparathyroidism and mild-to-moderate renal insufficiency.Endocrine · 2023Article
- Role of non-coding variants in cardiovascular disease.Journal of cellular and molecular medicine · 2023Review
- A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes.Endocrine · 2022Review
- Attitude of the surgical approach in hyperparathyroidism: A retrospective study.Experimental and therapeutic medicine · 2021Article
- Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature.International journal of endocrinology · 2019Review
- Should all patients with hyperparathyroidism be screened for a CDC73 mutation?Endocrinology, diabetes & metabolism case reports · 2018Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary hyperparathyroidism (PHPT) is a relatively rare disorder among children, adolescents and young adults. Its development at an early age is suspicious for hereditary causes, though the need for routine genetic testing remains controversial.
objectiveTo identify and describe hereditary forms of PHPT in patients with manifestation of the disease under 40 years of age.
designWe enrolled 65 patients with PHPT diagnosed before 40 years of age. Ten of them had
methodsThe other fifty-five patients underwent next-generation sequencing (NGS) of a custom-designed panel of genes, associated with PHPT (
resultsNGS revealed six pathogenic or likely pathogenic germline sequence variants: four in
conclusionsHereditary forms of PHPT can be identified in up to 1/3 of young patients with manifestation of the disease at <40 years of age. Parathyroid carcinomas or atypical parathyroid adenomas in young patients are frequently associated with
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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.