ReviewEndocrine2022
A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes.
Review in Endocrine, 2022. 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, 21 citations in OpenAlex.
- Primary Hyperparathyroidism in Adults: Recent Developments in Diagnosis and Management.The Medical journal of Australia · 2026Review
- Large Right Atrial Myxoma With Endocrine Abnormalities as a Possible Case of a Syndromic Disease: A Case Report.Clinical case reports · 2025Article
- Biased antibodies and beyond: a new era in the diagnosis of PTH-dependent hypercalcemia.Endocrine journal · 2025Review
- Radiologist- and Surgeon-Performed Ultrasound (RSUS) Facilitates Minimally İnvasive Parathyroidectomy (MIP): Optimal Biochemical Parameters and Patient Outcomes.Journal of clinical medicine · 2025Article
- An Analysis of Primary Hyperparathyroidism in Individuals Diagnosed with Multiple Endocrine Neoplasia Type 2.Diseases (Basel, Switzerland) · 2025Review
- Precision stratified treatment of primary hyperparathyroidism based on multilevel emerging biomarkers.Frontiers in endocrinology · 2025Review
- Turning Points in Cross-Disciplinary Perspective of Primary Hyperparathyroidism and Pancreas Involvements: Hypercalcemia-Induced Pancreatitis,International journal of molecular sciences · 2024Review
- Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum ofInternational journal of molecular sciences · 2024Review
- Neuroendocrine Parathyroid Tumors: Quality of Life in Patients with Primary Hyperparathyroidism.Biomedicines · 2023Review
- Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.Frontiers in endocrinology · 2023Article
- MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations.The Journal of clinical endocrinology and metabolism · 2022Article
- Targeted Next-Generation Sequencing ofIndian journal of endocrinology and metabolismArticle
- Diagnostic Dilemma Involving a Rare Case of aAACE endocrinology and diabetesArticle
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe improved access and affordability of next generation sequencing has facilitated the clinical use of gene panel testing to test concurrently patients for multiple heritable hyperparathyroidism syndromes. However, there is little guidance as to which patients should be selected for gene panel testing and which genes should be included in such panels. In this review, we provide a practical approach to considering, interpreting and managing genetic testing for familial primary hyperparathyroidism (PHPT) syndromes and familial hypocalciuric hypercalcaemia (FHH) in patients with PTH-dependent hypercalcaemia. We discuss known genes implicated in PHPT and FHH, testing criteria and yields, pre-test counselling, laboratory considerations, and post-test management.
methodsIn addition to reviewing the literature, we conducted audits of local genetic testing data to examine the real-world yield of genetic testing in patients with PTH-dependent hypercalcaemia.
resultsOur local audits revealed a positive genetic testing rate of 15-26% in patients with suspected hyperparathyroidism syndromes.
conclusionBased on the particular testing criteria met, affected patients should be tested for variants in the genes currently implicated in PHPT (MEN1, CDC73, RET, CDKN1B, GCM2, CASR) and/or FHH (CASR, GNA11, AP2S1). Patients should be provided with pre- and post-test counselling, including consideration of potential implications for family members.
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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.