Background And Objective: The exact underlying mechanism for the differential clinical profiles of symptomatic and asymptomatic primary hyperparathyroidism (PHPT) patients has not been fully elucidated, and efforts to define the molecular mechanisms underlying the phenotypic heterogeneity of PHPT have been limited. The aim of this study was to explore the underlying molecular mechanisms involved in the pathogenesis of symptomatic and asymptomatic sporadic PHPT in Asian Indians.
Methods: A prospective cohort study was conducted at a tertiary care hospital in North India. PHPT patients who underwent parathyroidectomy were included. The main outcome was the comparison of vitamin D receptor (VDR), calcium-sensing receptor (CaSR), cyclin D 1 (CD1), and parathyroid hormone (PTH) mRNA levels between symptomatic and asymptomatic PHPT patients and controls determined via quantitative real-time polymerase chain reaction (qRT-PCR).
Results: Forty-two PHPT patients were studied. The mean (SD) age was 49.7 (12.8) years. Twenty patients were asymptomatic. The median PTH levels were significantly greater in the symptomatic group than in the asymptomatic group (878 vs 653 pg/mL). CaSR and VDR mRNAs were significantly lower in both symptomatic and asymptomatic patients than in controls. CD1 and PTH mRNAs were significantly increased in symptomatic patients, but not in asymptomatic PHPT patients compared with controls. Symptomatic PHPT patients had significantly greater CD1 mRNA expression and reduced CaSR expression than asymptomatic patients.
Conclusion: Symptomatic PHPT patients had significantly greater CD1 mRNA expression and lower CaSR expression than asymptomatic patients, underscoring the importance of the molecular mechanisms underlying the phenotypic heterogeneity of PHPT.
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http://dx.doi.org/10.1093/ejendo/lvae122 | DOI Listing |
Fam Cancer
January 2025
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder caused by a germline pathogenic variant in the MEN1 tumor suppressor gene. Patients with MEN1 have a high risk for primary hyperparathyroidism (PHPT) with a penetrance of nearly 100%, pituitary adenomas (PitAd) in 40% of patients, and neuroendocrine neoplasms (NEN) of the pancreas (40% of patients), duodenum, lung, and thymus. Increased MEN1-related mortality is mainly related to duodenal-pancreatic and thymic NEN.
View Article and Find Full Text PDFBest Pract Res Clin Endocrinol Metab
January 2025
Department of Endocrinology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, India. Electronic address:
Adolescent primary hyperparathyroidism (PHPT) is a rare endocrine disorder bearing distinctions from the adult form. This review examines its unique aspects, focusing on clinical presentation, genetic etiologies, genotype-phenotype correlations, and therapeutic management. Adolescent PHPT often has a genetic basis, whether familial, syndromic, or apparently sporadic, and identifying the underlying genetic cause is important for patient care.
View Article and Find Full Text PDFHead Neck
January 2025
Head and Neck Surgery Department and LIM 28, University of São Paulo Medical School, São Paulo, Brazil.
Background: Radiofrequency ablation guided by ultrasound (RFA-USG) is an alternative treatment for primary hyperparathyroidism (PHPT) patients. Despite showing accurate precision and minimal invasion, its efficacy remains questionable.
Methods: We searched PubMed, Embase, Scopus, Cochrane Library, Portal Regional da Biblioteca Virtual em Saúde (BVS), Web of Science databases for randomized controlled trials (RCTs) and observational studies evaluating RFA-USG in PHPT patients.
Gland Surg
December 2024
Department of General, Visceral, Thoracic, Vascular and Transplant Surgery, University Medical Center Rostock, Rostock, Germany.
Background: Primary hyperparathyroidism (pHPT) is the third most common endocrine disease, affecting predominantly postmenopausal women. About 85% of cases are caused by a solitary parathyroid adenoma which leads to a hypersecretion of the parathyroid hormone (PTH) and consequently to elevated serum calcium concentrations. Parathyroidectomy is the only curative treatment.
View Article and Find Full Text PDFUpdates Surg
January 2025
Division of General Surgery, Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
The standardization of preoperative imaging in primary hyperparathyroidism is one of the current challenges of endocrine surgery. A correct localization of the hypersecretory gland by neck ultrasound and 99mTc-sestamibi (MIBI) scintigraphy are not sufficiently sensitive in some cases. In recent years, CT-4D, 18F-Fluorocholine PET/CT, and radio-guided parathyroidectomy have come into common use.
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