Rodopi Emfietzoglou, Giovanna Muscogiuri, Dimitrios Tsilingiris, Dimitrios Kounatidis, Theodora Stratigou, Natalia Vallianou, Irene Karampela, Efthimia K Basdra, Maria Dalamaga
{"title":"Macroglossia in endocrine and metabolic disorders: current evidence, perspectives and challenges.","authors":"Rodopi Emfietzoglou, Giovanna Muscogiuri, Dimitrios Tsilingiris, Dimitrios Kounatidis, Theodora Stratigou, Natalia Vallianou, Irene Karampela, Efthimia K Basdra, Maria Dalamaga","doi":"10.23736/S2724-6507.24.04219-2","DOIUrl":null,"url":null,"abstract":"<p><p>Macroglossia is an uncommon condition characterized by chronic, painless and abnormal enlargement of the tongue. A multitude of medical conditions can cause macroglossia. Major endocrine and metabolic disorders associated with macroglossia include genetic, congenital and acquired conditions, such as mucopolysaccharidoses; acquired and congenital hypothyroidism and myxedema; transient neonatal diabetes mellitus; acromegaly and amyloidosis. Macroglossia is often associated (~57-60%) with all types of mucopolysaccharidoses, particularly type I (Hurler syndrome) and type II (Hunter syndrome), being a prominent feature of the disorder. It may also occur in patients with acquired and congenital hypothyroidism and myxedema, being a common sign of congenital hypothyroidism with an approximate prevalence of 12-25% at the time of diagnosis. Macroglossia is a predominant oral finding in subjects with transient neonatal diabetes mellitus (~44%), acromegaly (54-69%) and amyloidosis (10-25%), particularly AL amyloidosis (20-40%) whereas is considered a hallmark of the disease. Secondary to macroglossia various disturbances may occur, such as difficulty in speech or eating, orthodontic anomalies or even more serious conditions including upper airway obstruction or obstructive sleep apnea. Until now, no comprehensive review has been conducted focusing on macroglossia in endocrine and metabolic disorders. The objective of this review is to summarize literature on the etiology and epidemiology of macroglossia in major endocrine and metabolic disorders. It highlights key aspects such as pathophysiology, clinical presentation, diagnostic evaluation, management and prognosis of macroglossia in the context of endocrine and metabolic disorders.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":null,"pages":null},"PeriodicalIF":2.5000,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Minerva endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.23736/S2724-6507.24.04219-2","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
Abstract
Macroglossia is an uncommon condition characterized by chronic, painless and abnormal enlargement of the tongue. A multitude of medical conditions can cause macroglossia. Major endocrine and metabolic disorders associated with macroglossia include genetic, congenital and acquired conditions, such as mucopolysaccharidoses; acquired and congenital hypothyroidism and myxedema; transient neonatal diabetes mellitus; acromegaly and amyloidosis. Macroglossia is often associated (~57-60%) with all types of mucopolysaccharidoses, particularly type I (Hurler syndrome) and type II (Hunter syndrome), being a prominent feature of the disorder. It may also occur in patients with acquired and congenital hypothyroidism and myxedema, being a common sign of congenital hypothyroidism with an approximate prevalence of 12-25% at the time of diagnosis. Macroglossia is a predominant oral finding in subjects with transient neonatal diabetes mellitus (~44%), acromegaly (54-69%) and amyloidosis (10-25%), particularly AL amyloidosis (20-40%) whereas is considered a hallmark of the disease. Secondary to macroglossia various disturbances may occur, such as difficulty in speech or eating, orthodontic anomalies or even more serious conditions including upper airway obstruction or obstructive sleep apnea. Until now, no comprehensive review has been conducted focusing on macroglossia in endocrine and metabolic disorders. The objective of this review is to summarize literature on the etiology and epidemiology of macroglossia in major endocrine and metabolic disorders. It highlights key aspects such as pathophysiology, clinical presentation, diagnostic evaluation, management and prognosis of macroglossia in the context of endocrine and metabolic disorders.
巨舌症是一种不常见的疾病,其特点是舌头慢性、无痛且异常肿大。多种疾病都可能导致巨舌症。与巨舌症有关的主要内分泌和代谢疾病包括遗传性、先天性和后天性疾病,如粘多糖病;后天性和先天性甲状腺功能减退症和肌水肿;一过性新生儿糖尿病;肢端肥大症和淀粉样变性。巨舌症通常(约 57-60%)与所有类型的粘多糖病有关,尤其是 I 型(赫勒综合征)和 II 型(亨特综合征),是该疾病的一个显著特征。后天性和先天性甲状腺功能减退症和肌水肿患者也可能出现巨舌症,这是先天性甲状腺功能减退症的常见症状,诊断时的发病率约为12%-25%。在患有一过性新生儿糖尿病(约44%)、肢端肥大症(54-69%)和淀粉样变性(10-25%),尤其是AL淀粉样变性(20-40%)的受试者中,巨舌是主要的口腔发现,而这被认为是该疾病的标志。巨舌症可能会继发各种障碍,如说话或进食困难、牙齿畸形或更严重的情况,包括上气道阻塞或阻塞性睡眠呼吸暂停。迄今为止,还没有针对大口畸形在内分泌和代谢紊乱中的表现进行过全面的综述。本综述旨在总结有关主要内分泌和代谢性疾病中巨口症的病因学和流行病学的文献。它强调了内分泌和代谢性疾病中巨口症的病理生理学、临床表现、诊断评估、管理和预后等关键方面。