Rare diseases in clinical endocrinology: a taxonomic classification system

• Published in: Journal of endocrinological investigation 2015-02, Vol.38 (2), p.193-259
• Main Authors: Marcucci, G., Cianferotti, L., Beck-Peccoz, P., Capezzone, M., Cetani, F., Colao, A., Davì, M. V., degli Uberti, E., Del Prato, S., Elisei, R., Faggiano, A., Ferone, D., Foresta, C., Fugazzola, L., Ghigo, E., Giacchetti, G., Giorgino, F., Lenzi, A., Malandrino, P., Mannelli, M., Marcocci, C., Masi, L., Pacini, F., Opocher, G., Radicioni, A., Tonacchera, M., Vigneri, R., Zatelli, M. C., Brandi, M. L.
• Format: Article
• Language: English
• Subjects: Adult; Classification; Consensus Statement; Endocrine System Diseases - classification; Endocrine System Diseases - diagnosis; Endocrinology; Endocrinology - classification; Endocrinology - methods; Female; Humans; Male; Medicine; Medicine & Public Health; Metabolic Diseases; Rare Diseases - classification; Rare Diseases - diagnosis; Research Report
• ISSN: 1720-8386; 1720-8386
• DOI: 10.1007/s40618-014-0202-6

Purpose 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. Methods and results 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. Conclusions 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.