Registrar in General Medicine, National Hospital of Sri Lanka, Ward 45/46, Colombo, Sri Lanka.
BMC Endocr Disord. 2022 Mar 16;22(1):68. doi: 10.1186/s12902-022-00985-w.
Multiple endocrine neoplasia type 1 (MEN 1) syndrome is a rare, complex genetic disorder characterized by increased predisposition to tumorigenesis in multiple endocrine and non-endocrine tissues. Diagnosis and management of MEN 1 syndrome is challenging due to its vast heterogeneity in clinical presentation.
A 23-year-old female, previously diagnosed with Polycystic Ovarian Syndrome (PCOS) and pituitary microprolactinoma presented with drowsiness,confusion and profuse sweating developing over a period of one day. It was preceded by fluctuating, hallucinatory behavior for two weeks duration. There was recent increase in appetite with significant weight gain. There was no fever, seizures or symptoms suggestive of meningism. Her Body mass index(BMI) was 32 kg/m.She had signs of hyperandrogenism. Multiple cutaneous collagenomas were noted on anterior chest and abdominal wall. Her Glasgow Coma Scale was 9/15. Pupils were sluggishly reactive to light. Tendon reflexes were exaggerated with up going planter reflexes. Moderate hepatomegaly was present. Rest of the clinical examination was normal. Laboratory evaluation confirmed endogenous hyperinsulinaemic hypoglycaemia suggestive of an insulinoma. Hypercalcemia with elevated parathyroid hormone level suggested a parathyroid adenoma. Presence of insulinoma, primary hyperparathyroidism and pituitary microadenoma, in 3 decade of life with characteristic cutaneous tumours was suggestive of a clinical diagnosis of MEN 1 syndrome. Recurrent, severe hypoglycaemia complicated with hypoglycaemic encephalopathy refractory to continuous, parenteral glucose supplementation and optimal pharmacotherapy complicated the clinical course. Insulinoma was localized with selective arterial calcium stimulation test. Distal pancreatectomy and four gland parathyroidectomy was performed leading to resolution of symptoms.
Renal calculi or characteristic cutaneous lesions might be the only forewarning clinical manifestations of an undiagnosed MEN 1 syndrome impending a life-threatening presentation. Comprehensive management of MEN 1 syndrome requires multi-disciplinary approach with advanced imaging modalities, advanced surgical procedures and long-term follow up due to its heterogeneous presentation and the varying severity depending on the disease phenotype.
多发性内分泌腺肿瘤 1 型（MEN1）综合征是一种罕见的、复杂的遗传性疾病，其特征是多种内分泌和非内分泌组织的肿瘤易感性增加。由于其临床表现的巨大异质性，MEN1 综合征的诊断和管理具有挑战性。
一名 23 岁女性，此前被诊断为多囊卵巢综合征（PCOS）和垂体泌乳素微腺瘤，出现嗜睡、意识模糊和大量出汗，持续一天。在此之前，她有两周时间出现波动、幻觉行为。最近食欲增加，体重明显增加。无发热、癫痫或脑膜刺激征症状。她的体重指数（BMI）为 32kg/m2，有高雄激素血症的体征。前胸部和腹壁有多处皮肤胶原瘤。格拉斯哥昏迷量表评分为 9/15。瞳孔对光反应迟钝。腱反射亢进，呈上翘足反射。中度肝肿大。其余临床检查正常。实验室评估证实存在内源性高胰岛素血症性低血糖，提示存在胰岛素瘤。高钙血症伴甲状旁腺激素水平升高提示甲状旁腺腺瘤。30 岁时出现胰岛素瘤、原发性甲状旁腺功能亢进和垂体微腺瘤，以及特征性皮肤肿瘤，提示临床诊断为 MEN1 综合征。反复发作、严重低血糖合并低血糖性脑病，对持续静脉葡萄糖补充和最佳药物治疗均无反应，使病情复杂化。胰岛素瘤通过选择性动脉钙刺激试验定位。进行胰远端切除术和四腺甲状旁腺切除术，症状得到缓解。
肾结石或特征性皮肤病变可能是未诊断的 MEN1 综合征唯一的预警临床表现，可能导致危及生命的表现。由于其临床表现异质性和疾病表型的严重程度不同，MEN1 综合征的综合管理需要多学科方法，包括先进的影像学检查、先进的手术程序和长期随访。
