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Rare diseases in clinical endocrinology: a taxonomic classification system

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Abstract

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.

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Abbreviations

ACA Abs:

Adrenal cortex antibodies

AFP:

Alpha fetoprotein

ALP:

Alkaline phosphatase

Apo B:

Apolipoprotein B

AVP:

Arginine vasopressin

BAP:

Bone alkaline phosphatase

BB-CK:

Brain-specific creatine kinase isoenzyme

β-HCG:

β-Human chorionic gonadotropin

Ca:

Calcium

cAMP:

Cyclic adenosine monophosphate

CaSR:

Calcium-sensing receptor

CEA:

Carcino-embryonic antigen

CgA:

Chromogranin A

CK:

Creatin kinase

DDAVP:

Desmopressin

DHEA:

Dehydroepiandrosterone

DHEA-s:

Dehydroepiandrosterone-sulfate

DHT:

Dihydrotestosterone

DIT:

Di-iodinated tyrosine

DOC:

Deoxycorticosterone

FGF23:

Fibroblast growth factor 23

FPG:

Fasting plasma glucose

GAD Abs:

Glutamic acid decarboxylase antibodies

GIST:

Gastro-intestinal stromal tumors

Gs:

G-protein alpha subunit

hCG:

Human chorionic gonadotropin

HDL:

High-density lipoprotein

5-HIAA:

5-Hydroxyindoleacetic acid

5-HT:

5-Hydroxytryptophan

IA2 Abs:

Tyrosine phosphatase antibodies

IDL:

Intermediate-density lipoprotein

IGF-1:

Insulin-like growth factor

K:

Potassium

LDL:

Low-density lipoprotein

LPL:

Lipoprotein lipase

Mg:

Magnesium

MIT:

Mono-iodinated tyrosine

MPC Abs:

Melanin-producing cells antibodies

Na:

Sodium

NSE:

Neuron-specific enolase

21OH Abs:

21 hydroxylase antibodies

17-OHP:

17 OH progesterone

17α-OH Abs:

17 alpha-hydroxylase antibodies

P:

Phosphorus

PCA Abs:

Parietal cell antibodies

PP:

Pancreatic polypeptide

PRL:

Prolactin

PTHrP:

Parathyroid hormone-related protein

SCC Abs:

Side-chain cleavage enzyme antibodies

SS:

Somatostatin

StCA Abs:

Steroid-producing cell antibodies

TmP/GFR:

Renal tubular reabsorption of phosphate

tTGA Abs:

Tissue transglutaminase antibodies

TPO Abs:

Thyroid peroxidase antibodies

UFC:

Urinary free cortisol

Ur. Ca:

Urinary calcium

Ur. K:

Urinary potassium

Ur. Na:

Urinary sodium

Ur. P:

Urinary phosphorus

VIP:

Vasoactive intestinal polypeptide

VLCFA:

Very long chain fatty acids

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Acknowledgments

This work was made possible through an unrestricted grant from F.I.R.M.O. Fondazione Raffaella Becagli.

Conflict of interest

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Authors and Affiliations

  1. Head, Bone Metablic Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini 6, 50139, Florence, Italy

    G. Marcucci, L. Cianferotti & M. L. Brandi

  2. Department of Clinical Sciences and Community Health, University of Milan and Endocrine Unit, Fondazione IRCCS Ca’ Granda, Milan, Italy

    P. Beck-Peccoz & L. Fugazzola

  3. Section of Endocrinology and Metabolism, Department of Internal Medicine, Endocrinology and Metabolism and Biochemistry, University of Siena, Policlinico Santa Maria alle Scotte, Siena, Italy

    M. Capezzone

  4. Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

    F. Cetani, R. Elisei & M. Tonacchera

  5. Dipartimento di Medicina Clinica e Chirurgia, Università Federico II di Napoli, Naples, Italy

    A. Colao & A. Faggiano

  6. Section D, Department of Medicine, Clinic of Internal Medicine, University of Verona, Verona, Italy

    M. V. Davì

  7. Section of Endocrinology, Department of Medical Sciences, University of Ferrara, Ferrara, Italy

    E. degli Uberti & M. C. Zatelli

  8. Section of Metabolic Diseases and Diabetes, Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy

    S. Del Prato

  9. Endocrinology, Department of Internal Medicine and Medical Specialties and Center of Excellence for Biomedical Research, IRCCS AOU San Martino-IST, University of Genoa, Genoa, Italy

    D. Ferone

  10. Department of Medicine and Centre for Human Reproduction Pathology, University of Padova, Padua, Italy

    C. Foresta

  11. Division of Endocrinology, Diabetology and Metabolism Department of Medical Sciences, University Hospital Città Salute e Scienza, Turin, Italy

    E. Ghigo

  12. Division of Endocrinology, Azienda Ospedaliero-Universitaria, Ospedali Riuniti Umberto I-GM Lancisi-G Salesi, Università Politecnica delle Marche, Ancona, Italy

    G. Giacchetti

  13. Section of Internal Medicine, Endocrinology, Andrology and Metabolic Diseases, Department of Emergency and Organ Transplantation, University of Bari Aldo Moro, Bari, Italy

    F. Giorgino

  14. Chair of Endocrinology, Section Medical Pathophysiology, Food Science and Endocrinology, Department Exp. Medicine, Sapienza University of Rome, Policlinico Umberto I, Rome, Italy

    A. Lenzi

  15. Endocrinology, Department of Clinical and Molecular Biomedicine, Garibaldi-Nesima Medical Center, University of Catania, Catania, Italy

    P. Malandrino

  16. Endocrinology Unit, Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy

    M. Mannelli

  17. Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy

    C. Marcocci

  18. Department of Orthopedic, Metabolic Bone Diseases Unit AOUC-Careggi Hospital, Largo Palagi, 1, Florence, Italy

    L. Masi

  19. Section of Endocrinology and Metabolism, University of Siena, Siena, Italy

    F. Pacini

  20. Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padua, Italy

    G. Opocher

  21. Department of Medicine DIMED, University of Padova, Padova, Italy

    G. Opocher

  22. Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy

    A. Radicioni

  23. Department of Clinical and Molecular Biomedicine, University of Catania, and Humanitas Catania Center of Oncology, Catania, Italy

    R. Vigneri

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  1. G. Marcucci
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  2. L. Cianferotti
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  29. M. L. Brandi
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Correspondence to G. Marcucci.

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Marcucci, G., Cianferotti, L., Beck-Peccoz, P. et al. Rare diseases in clinical endocrinology: a taxonomic classification system. J Endocrinol Invest 38, 193–259 (2015). https://doi.org/10.1007/s40618-014-0202-6

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