ReviewClinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases
Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update.
Review in Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 58 citations in OpenAlex.
- A Giant Parathyroid Adenoma Presenting as Coughs and Dyspnea in a Young Woman: A Case Report.Clinical case reports · 2026Article
- Persistent Hypercalcemia Despite Parathyroidectomy for Primary Hyperparathyroidism in an Adult with Nephrocalcinosis and Nephrolithiasis Caused by a Novel Combination of Two PathogenicInternational journal of molecular sciences · 2025Article
- [Genetic profiling of parathyroid tumours: lifting the veil of mystery].Problemy endokrinologii · 2025Review
- Article
- Case report: Microwave ablation is a safe and effective method for primary hyperparathyroidism in pregnancy.Frontiers in medicine · 2024Article
- Recurrent Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 1 Syndrome.Physiological research · 2023Article
- Pediatric hyperparathyroidism and ossification of the ligamentum flavum: A case report.Radiology case reports · 2023Article
- [Special features of the diagnostics and treatment of hereditary primary hyperparathyroidism].Chirurgie (Heidelberg, Germany) · 2023Review
- Sporadic parathyroid adenoma: an updated review of molecular genetics.Frontiers in endocrinology · 2023Review
- Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Review
- Multiglandular Parathyroid Disease in Primary Hyperparathyroidism With Inconclusive Conventional Imaging.Physiological research · 2022Article
- Primary Hyperparathyroidism in Pregnancy: Literature Review of the Diagnosis and Management.Journal of clinical medicine · 2021Review
- Pediatric hyperparathyroidism: review and imaging update.Pediatric radiology · 2021Review
- Parathyroid Disease in Pregnancy and Lactation: A Narrative Review of the Literature.Biomedicines · 2021Review
- Circulating and Tissue Expression Profile of MicroRNAs in Primary Hyperparathyroidism Caused by Sporadic Parathyroid Adenomas.JBMR plus · 2021Article
- Case Report: Unusual Presentations of Loss-of-Function Mutations of the Calcium-Sensing Receptor.Frontiers in medicine · 2021Article
- Ossifying fibroma of the jaw bones in hyperparathyroidism-jaw tumor syndrome: Analysis of 24 cases retrieved from literatures.Journal of dental sciences · 2020Article
- Gender Predilection in Sporadic Parathyroid Adenomas.International journal of molecular sciences · 2020Review
- Gnathic Bones and Hyperparathyroidism: A Review on the Metabolic Bony Changes Affecting the Mandible and Maxilla in case of Hyperparathyroidism.Advances in medicine · 2020Review
- Management of primary hyperparathyroidism in pregnancy: a case series.Endocrinology, diabetes & metabolism case reports · 2019Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary hyperparathyroidism (PHPT) is one of the most frequent endocrine disease in developed countries. It mainly occurs as sporadic cases (about 90-95% of cases), while only the remaining 5-10% is represented by familial inherited parathyroid disorders due to causative mutations in specific target genes. Clinical variability among the different familial parathyroid syndromes is generally linked to the specific mutated gene and it can predispose subjects to different manifestations of parathyroid pathology, various degrees of PHPT severity, persistence and/or after-surgery recurrences. Genetic tests is helpful in differential diagnosis favouring the recognition of the specific familial PHPT syndrome and, subsequently, in planning the most suitable surgical procedures and/or pharmacological interventions. Moreover, genetic test is important to recognise mutation carriers, within PHPT familial forms, even before the appearance of biochemical and/or clinical symptoms. This review resumes general concepts about genetic diagnosis of PHPT in familial hereditary syndromes, specifically describing why, when, and which genetic screenings should be performed in every specific PHPT-associated parathyroid disease.
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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.