Department of Endocrinology and Diabetes, Medanta - The Medicity, Gurugram, 122001 Haryana, India.
Department of Endocrinology, Postgraduate Institute of Medical Education and Research (PGIMER), 160012 Chandigarh, India.
Eur J Endocrinol. 2024 Sep 30;191(4):457-462. doi: 10.1093/ejendo/lvae122.
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.
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).
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.
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.
症状性和无症状性原发性甲状旁腺功能亢进症（PHPT）患者临床表现的差异确切的潜在机制尚未完全阐明，并且定义 PHPT 表型异质性潜在分子机制的努力受到限制。本研究旨在探讨印度裔人群中症状性和无症状性散发性 PHPT 发病机制中涉及的潜在分子机制。
在印度北部的一家三级护理医院进行了一项前瞻性队列研究。纳入接受甲状旁腺切除术的 PHPT 患者。主要结局是通过定量实时聚合酶链反应（qRT-PCR）比较症状性和无症状性 PHPT 患者与对照组之间维生素 D 受体（VDR）、钙敏感受体（CaSR）、细胞周期蛋白 D1（CD1）和甲状旁腺激素（PTH）mRNA 水平。
研究了 42 例 PHPT 患者。平均（SD）年龄为 49.7（12.8）岁。20 例患者无症状。症状组的中位 PTH 水平明显高于无症状组（878 vs 653 pg/mL）。CaSR 和 VDR mRNA 在症状性和无症状性患者中均明显低于对照组。CD1 和 PTH mRNA 在症状性患者中显著增加，但在无症状 PHPT 患者中与对照组相比没有增加。症状性 PHPT 患者的 CD1 mRNA 表达显著增加，CaSR 表达降低，与无症状患者相比差异有统计学意义。
症状性 PHPT 患者的 CD1 mRNA 表达显著增加，CaSR 表达降低，表明 PHPT 表型异质性的潜在分子机制的重要性。
