Department of Endocrine Surgery, University Hospital La Timone, 264 rue Saint-Pierre, 13385, Marseille, France.
World J Surg. 2010 Jun;34(6):1294-8. doi: 10.1007/s00268-009-0388-5.
Familial hyperparathyroidism, especially Multiple Endocrine Neoplasia Type 1, is more likely to present with primary hyperparathyroidism (1 degrees HPT) at a young age, mandating bilateral exploration of the parathyroid glands. However, the majority of young patients will not be gene carriers or have a family history. Recent evidence suggests that young adults under 40, in whom there is no suspicion of family history, can be managed with the same pre- and perioperative strategy as used for sporadic primary HPT of any age. Our aim was to evaluate the prevalence of mutations in the MEN1 gene in young adults under 40 who present with apparent sporadic 1 degrees HPT.
A retrospective review was undertaken of all patients who underwent surgery for 1 degrees HPT between 1993 and 2004. From a total of 1253 patients, 87 (6.2%) were under the age of 40. Thirty-three patients provided informed consent to a detailed personal and family history, physical examination, and genetic analysis of the MEN1 gene. Twelve patients were subsequently excluded as they were known gene carriers prior to surgery (10 MEN1 and 2 MEN2A patients). Twenty-one patients underwent genetic analysis.
Of the 21 patients who consented to genetic analysis, the mean age was 30.8 years (range = 18-39 years with 43% younger than 30). These patients had no suspicious family or personal histories suggestive of a MEN phenotype. Fifteen patients presented with symptomatic hypercalcemia. All 21 patients underwent parathyroid surgery by conventional cervicotomy (12) or endoscopic parathyroidectomy in cases (9) where the parathyroid gland was localized preoperatively. Nineteen patients (91%) had uniglandular disease. Surgical cure was achieved in all patients. Of the 21 patients, only one patient (4.7%) was found to have a MEN1 gene mutation (exon 3, at codon 190, c;680_681delGGinsC). This patient was found to have double adenomas at surgery with subsequent histological confirmation. The overall prevalence of MEN1 mutation in all patients under 40 was 13%.
Although young age is often the only criterion to suspect MEN1, our results do not support routine MEN1 analysis in patients under 40. We propose that these patients be managed with the same preoperative and surgical approach as those presenting with sporadic 1 degrees HPT of any age.
家族性甲状旁腺功能亢进症，尤其是多发性内分泌腺瘤病 1 型（MEN1），更有可能在年轻时表现为原发性甲状旁腺功能亢进症（1 度 HPT），需要双侧甲状旁腺探查。然而，大多数年轻患者并非基因携带者或有家族史。最近的证据表明，年龄在 40 岁以下且无家族史可疑的年轻成年人，可以采用与任何年龄的散发性原发性 1 度 HPT 相同的术前和围手术期策略进行治疗。我们的目的是评估在年龄在 40 岁以下且表现为明显散发性 1 度 HPT 的年轻成年人中，MEN1 基因突变的发生率。
对 1993 年至 2004 年间因 1 度 HPT 而接受手术的所有患者进行了回顾性分析。在总共 1253 名患者中，有 87 名（6.2%）年龄在 40 岁以下。33 名患者同意进行详细的个人和家族史、体格检查以及 MEN1 基因突变分析。随后有 12 名患者因术前已知为基因携带者而被排除在外（10 名 MEN1 和 2 名 MEN2A 患者）。21 名患者接受了基因分析。
在同意进行基因分析的 21 名患者中，平均年龄为 30.8 岁（范围=18-39 岁，其中 43%年龄小于 30 岁）。这些患者没有可疑的家族或个人病史提示 MEN 表型。15 名患者表现为症状性高钙血症。所有 21 名患者均通过传统颈切口（12 例）或术前定位甲状旁腺的内镜甲状旁腺切除术（9 例）进行甲状旁腺手术。19 名患者（91%）为单腺疾病。所有患者均获得手术治愈。在 21 名患者中，仅 1 名患者（4.7%）发现 MEN1 基因突变（外显子 3，密码子 190，c；680_681delGGinsC）。该患者在手术中发现有双腺瘤，随后组织学证实。所有年龄在 40 岁以下的患者中 MEN1 基因突变的总体发生率为 13%。
尽管年轻往往是怀疑 MEN1 的唯一标准，但我们的结果不支持对年龄在 40 岁以下的患者进行常规 MEN1 分析。我们建议对这些患者采用与任何年龄的散发性 1 度 HPT 相同的术前和手术方法进行治疗。
