Head, Bone Metablic Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini 6, 50139, Florence, Italy.
Department of Clinical Sciences and Community Health, University of Milan and Endocrine Unit, Fondazione IRCCS Ca' Granda, Milan, Italy.
J Endocrinol Invest. 2015 Feb;38(2):193-259. doi: 10.1007/s40618-014-0202-6. Epub 2014 Nov 7.
Rare endocrine-metabolic diseases (REMD) represent an important area in the field of medicine and pharmacology. The rare diseases of interest to endocrinologists involve all fields of endocrinology, including rare diseases of the pituitary, thyroid and adrenal glands, paraganglia, ovary and testis, disorders of bone and mineral metabolism, energy and lipid metabolism, water metabolism, and syndromes with possible involvement of multiple endocrine glands, and neuroendocrine tumors. Taking advantage of the constitution of a study group on REMD within the Italian Society of Endocrinology, consisting of basic and clinical scientists, a document on the taxonomy of REMD has been produced.
This document has been designed to include mainly REMD manifesting or persisting into adulthood. The taxonomy of REMD of the adult comprises a total of 166 main disorders, 338 including all variants and subtypes, described into 11 tables.
This report provides a complete taxonomy to classify REMD of the adult. In the future, the creation of registries of rare endocrine diseases to collect data on cohorts of patients and the development of common and standardized diagnostic and therapeutic pathways for each rare endocrine disease is advisable. This will help planning and performing intervention studies in larger groups of patients to prove the efficacy, effectiveness, and safety of a specific treatment.
罕见内分泌代谢疾病（REMD）是医学和药理学领域的一个重要领域。内分泌学家关注的罕见疾病涉及内分泌学的所有领域，包括垂体、甲状腺和肾上腺、副神经节、卵巢和睾丸的罕见疾病、骨和矿物质代谢紊乱、能量和脂质代谢、水代谢以及可能涉及多个内分泌腺的综合征，以及神经内分泌肿瘤。利用意大利内分泌学会内 REMD 研究小组的构成，由基础和临床科学家组成，编写了一份关于 REMD 分类的文件。
本文件旨在纳入主要表现为或持续至成年期的 REMD。成年期 REMD 的分类学共包括 166 种主要疾病，包括所有变体和亚型的 338 种疾病，共分为 11 个表进行描述。
本报告提供了一种完整的分类法来分类成年期的 REMD。将来，建议建立罕见内分泌疾病登记处，收集患者队列的数据，并为每种罕见内分泌疾病制定共同和标准化的诊断和治疗途径。这将有助于在更大的患者群体中规划和开展干预研究，以证明特定治疗的疗效、有效性和安全性。
