The data from the Indian subcontinent on Medullary thyroid carcinoma (MTC) and associated endocrinopathies in hereditary MTC (HMTC) syndromes are limited. Hence, we analyzed clinical and biochemical characteristics, management, and outcomes of HMTC and other associated endocrinopathies [Pheochromocytoma (PCC) and Primary hyperparathyroidism (PHPT)] and compared with apparently sporadic MTC. The records of 97 (51 sporadic and 46 hereditary) consecutive MTC patients were retrospectively analyzed. RET mutation was available in 38 HMTC patients. HMTC group was subclassified into Multiple endocrine neoplasia (MEN) 2A index (n = 25), MEN2B index (n = 8), and MEN2A detected by familial screening (n = 12). Patients with HMTC and MEN2B index were younger at presentation than sporadic MTC. MEN2A patients detected by familial screening, but not MEN2A index and MEN2B index patients, had significantly lower serum calcitonin, smaller thyroid nodule size, more frequent early stage presentation (AJCC Stage ≤ II), and higher cure rate than sporadic MTC, which emphasizes the need for early diagnosis. RET (REarranged during Transfection) 634 mutations were the most common cause of HMTC and more frequently associated with PCC (overall 54% and 100% in those aged ≥ 35 years). Patients in ATA-Highest (HST) group had a universal presentation in stage IV with no cure. In contrast, the cure rate and postoperative disease progression (calcitonin doubling time) were similar between ATA-High (H) and ATA- Moderate (MOD) groups, suggesting the need for similar follow-up strategies for the latter two groups. Increased awareness of endocrine (PCC/PHPT) and non endocrine components may facilitate early diagnosis and management.

印度次大陆关于甲状腺髓样癌 (MTC) 和遗传性 MTC (HMTC) 综合征相关内分泌疾病的数据有限。因此，我们分析了 HMTC 和其他相关内分泌疾病 [嗜铬细胞瘤 (PCC) 和原发性甲状旁腺功能亢进症 (PHPT)] 的临床和生化特征、管理和结果，并与明显散发的 MTC 进行了比较。回顾性分析了 97 名（51 名散发性和 46 名遗传性）连续 MTC 患者的记录。返回突变在 38 名 HMTC 患者中可用。HMTC 组被细分为多发性内分泌肿瘤 (MEN) 2A 指数（n = 25）、MEN2B 指数（n = 8）和家族筛查检测到的 MEN2A（n = 12）。HMTC 和 MEN2B 指数的患者在就诊时比散发性 MTC 年轻。家族筛查检测到的 MEN2A 患者，而非 MEN2A 指数和 MEN2B 指数患者，血清降钙素显着降低，甲状腺结节尺寸更小，早期表现更频繁（AJCC 分期 ≤ II），治愈率高于散发性 MTC，这强调了需要早期诊断。返回（在转染过程中重新排列）634 个突变是 HMTC 的最常见原因，并且更常与 PCC 相关（总体上 54% 和 100% 在 ≥ 35 岁的人中）。ATA-Highest (HST) 组的患者普遍处于 IV 期，无法治愈。相比之下，ATA-High (H) 组和 ATA-Moderate (MOD) 组的治愈率和术后疾病进展（降钙素倍增时间）相似，表明后两组需要类似的随访策略。提高对内分泌 (PCC/PHPT) 和非内分泌成分的认识可能有助于早期诊断和管理。