Department of Diabetes and Endocrinology, Royal Hobart Hospital, Hobart, TAS, Australia.
School of Medicine, University of Tasmania, Hobart, TAS, Australia.
Clin Endocrinol (Oxf). 2019 Nov;91(5):633-638. doi: 10.1111/cen.14067. Epub 2019 Aug 14.
Multiple endocrine neoplasia 1 (MEN 1) is an autosomal dominant disease presenting as hyperplasia and neoplasia of parathyroid, pituitary and enteropancreatic tissues. Over 90% of gene carriers develop phenotypic disease by age 30 years, potentially with onset of asymptomatic disease during childhood and adolescence.
To describe the paediatric and young adult manifestations of MEN 1.
Descriptive retrospective study of 180 patients with a common MEN1 genotype. The paediatric and young adult (age <22 years) manifestations were determined using hospital records and disease surveillance data.
Primary hyperparathyroidism (PHPT) was identified in 42 patients (mean age 17.2 ± 3.3 years). Parathyroidectomy was performed in 16 (38.1%; mean age 17.8 ± 3.2). Four patients experienced recurrent PHPT (25%), and six (37.5%) developed permanent hypoparathyroidism. Pituitary disease was identified in 13 patients. Prolactinoma was found in nine patients (mean age 16.6 ± 2.6 years) of whom four (44.4%) had macroprolactinoma. Two patients required surgical intervention; dopamine agonists showed efficacy in six patients. Two patients with Cushing's disease were successfully treated surgically. Three patients with nonfunctioning pituitary microadenoma managed conservatively. Pancreatic neuroendocrine neoplasms (pNENs) were diagnosed in 12 patients (mean age 17.0 ± 2.6 years): three patients with insulinoma successfully resected (two resected and one exhibiting perineural invasion) and nine patients with nonfunctioning adenomas (NFAs).
Pituitary adenomas, PHPT and pNENs are encountered in the paediatric and young adult MEN 1 population. Successful outcomes are typically achieved using standard medical and surgical paradigms; however, parathyroidectomy was associated with a substantial complication rate.
多发性内分泌腺瘤 1 型（MEN1）是一种常染色体显性疾病，表现为甲状旁腺、垂体和肠胰腺组织的增生和肿瘤。超过 90%的基因携带者在 30 岁之前会出现表型疾病，儿童和青少年时期可能会出现无症状疾病。
描述 MEN1 的儿科和青年表现。
对 180 例具有常见 MEN1 基因型的患者进行描述性回顾性研究。使用医院记录和疾病监测数据确定儿科和青年（年龄<22 岁）表现。
42 例患者（平均年龄 17.2±3.3 岁）被诊断为原发性甲状旁腺功能亢进症（PHPT）。16 例患者（38.1%；平均年龄 17.8±3.2 岁）接受了甲状旁腺切除术。4 例患者发生复发性 PHPT（25%），6 例（37.5%）发生永久性甲状旁腺功能减退症。13 例患者发现垂体疾病。9 例患者（平均年龄 16.6±2.6 岁）被诊断为催乳素瘤，其中 4 例（44.4%）为大催乳素瘤。2 例患者需要手术干预；多巴胺激动剂在 6 例患者中显示出疗效。2 例库欣病患者手术治疗成功。3 例无功能性垂体微腺瘤患者保守治疗。12 例患者（平均年龄 17.0±2.6 岁）被诊断为胰腺神经内分泌肿瘤（pNENs）：3 例胰岛素瘤患者成功切除（2 例切除，1 例有神经周围侵犯），9 例无功能性腺瘤（NFAs）。
在儿科和青年 MEN1 人群中会遇到垂体腺瘤、PHPT 和 pNENs。通常使用标准的医学和手术方法可以取得良好的治疗效果；然而，甲状旁腺切除术与相当高的并发症发生率相关。
