EU Reference Network Rare Endocrine Conditions ~ Endo ERN

Rare Endocrine Conditions
Endocrine Conditions

Endo-ERN is focused on 8 main thematic groups (MTGs) which cover rare and/or complex endocrine conditions

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Categories

MTG1Adrenal

MTG2Disorders of Calcium & Phosphate Homeostasis

MTG3Genetic Disorders of Glucose & Insulin Homeostasis

MTG4Genetic Endocrine Tumour Syndromes

MTG5Growth & Genetic Obesity Syndromes

MTG6Hypothalamic and Pituitary Conditions

MTG7Sex Development & Maturation

MTG8Thyroid
About Us
About Us

Endo-ERN is a network of 100+ Reference Centres (RCs) in 28 EU member states that offers access to clinical experts for patients with rare endocrine conditions.

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Endo-ERN is the network for rare endocrine conditions providing healthcare professionals with access to a variety of resources to support patient care.

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If you work at a member institution this page will help with your Endo-ERN contributions.

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Access to rare disease expertise without the need to travel is a core ERN objective. Our ePAGs contribute to all Endo-ERN activities.

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Endo-ERN is a network connecting patients and healthcare providers across Europe, aiming to provide knowledge and resources for diagnosis and treatment of rare endocrine conditions.

Endo-ERN’s rare disease registries help to support better global scientific research and development. One of the main goals is to implement the patient voice at the core of research needs and the forming of guidelines.

Virtual consultations across national borders: expert care throughout Europe, no travel required.

Endo-ERN News

REGISTER: Upcoming Workshops Patient Rights and Rare Diseases in the European Union

The European Commission is hosting workshops in several countries with a focus on patient rights in cross-border healthcare and European

NEWS: Joint Action on Integration of ERNs into national healthcare systems (JARDIN) bullet point newsletter 2

The Joint Action on Integration of ERNs into National Healthcare Systems (JARDIN) project has put out their first Bullet Point

CONTRIBUTE: Cross-Border Access to Paediatric Clinical Trials Working Group (WG) survey

The Cross-Border Access to Paediatric Clinical Trials Working Group (WG) created by the European Network of Paediatric Research at the

RESULTS: Screening Rare Disease at Birth

EURORDIS recently published the results of their full Rare Barometer survey which can be found here. The key findings are

NEW GUIDELINE: Bardet-Biedl syndrome

Just published Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations . Four European

ENGAGED: Endo-ERN ePAG Bernd Rosenbichler

Endo-ERN ePAG Bernd Rosenbichler shared a recent event organised by a local representative that featured his talented son Ben. “Erich

SAVE THE DATE: Endo-ERN General Assembly (GA) 2025

We are excited to announce that the 9th Endo-ERN General Assembly is scheduled for Friday May 9, from 13:30 to

SAVE THE DATE: MTG5 webinar Update SGA, GH treatment beyond childhood

Please save the date for this webinar. Speakers and topics confirmed in due course. Register now and you will be

SYMPOSIUM ADDED: 62nd Annual ESPE Meeting, 16-18 November, Liverpool, UK

The 62nd Annual European Society for Paediatric Endocrinology (ESPE) will take place 16-18 November in Liverpool, England. The Endo-ERN project

WEBINAR: Management of genetic obesity and food seeking behaviour e.d. in BBS/ALSTRÖM/PRADER WILLI syndromes / use of GLP-1 agonists in these conditions

Register now for this upcoming Endo-ERN webinar. Genetic obesity is associated with difficulties in the regulation of appetite and satiety,

WEBINAR: SWEET-the role of a worldwide registry to investigate rare diabetes

Register now for this upcoming webinar organised by Endo-ERN’s MTG3. An application has been made to the UEMS EACCME® for

REGISTER NOW: The new genetics of Turner syndrome webinar

Register now for this upcoming webinar on Monday, 2 December at 1730-1830. Prof. Claus Gravholt, MD, PhD, Aarhus University Hospital

Participating Reference Centres

For Healthcare Professionals

Clinical Patient Management System (CPMS), a secure web-based application that supports the European Reference Networks in the diagnosis and treatment of rare or low-prevalence complex diseases or conditions across national borders, our multidisciplinary teams of experts are able to give virtual consultations to diagnose, suggest treatment or surgery, and then provide post-operative and transitional support.

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Endocrine Conditions

For classification of endocrine conditions, there are eight main thematic groups (MTG) defined within Endo-ERN. These MTGs are organ and/or physiology based, cover care throughout the entire lifespan of patients and cover the total spectrum of congenital and acquired conditions.

MTG1

Adrenal

Rare adrenal disorders comprise those with hormonal oversecretition and/or overgrowth and those with inappropriate low endocrine functionality. Oversecretion and tumour growth often requires surgical or targeted medical therapy, patients with adrenal insufficiency need hormonal replacement therapy.

MTG2

Disorders of Calcium & Phosphate Homeostasis

Calcium and Phosphate Homeostasis is of major importance to a large number of hysiological processes thereby affecting several organ systems typically bone, muscles, kidney, brain with consequences on quality of life and risk of chronic disability.

MTG3

Genetic disorders of Glucose & Homeostasis

For genetic disorders of glucose and insulin homeostasis 3 subthematic subgroups are defined: Insulin-resistance syndrome; Hyperinsulinism and other forms of hypoglycemia Rare diabetes mellitus.

MTG4

Genetic Endocrine Tumour Syndromes

Multi-organ conditions that are dominantly inherited, and manifest throughout childhood and adult life. In recent years predictive testing has been introduced, with patients being identified in the preclinical state, and often in early childhood.

MTG5

Growth & Genetic Obesity Syndromes

A group of imprinting disorders for which care have been well organised: Prader Willi Syndrome, Silver Russell Syndrome, and Beckwith Wiedemann Syndrome and a group of Growth hormone and IGF-I insensitivity including Laron and Noonan Syndrome, as well as other overgrowth and growth retardation syndromes.

MTG6

Hypothalamic and Pituitary Conditions

Rare pituitary disorders are a group of various clinical syndromes with low prevalence (main groups 100-500 million, specific diseases/genetic disorders less than 1 million) requiring multidisciplinary and lifelong care because of the central endocrine function of the pituitary.

MTG7

Sex Development & Maturation

This Main Thematic Group (MTG) is dedicated to the Disorders of sex development (DSD) and the Disorders of sex maturation (DSM). These are medical conditions involving the reproductive system in both sexes.

MTG8

Thyroid

There are 3 subthematic groups for Thyriod: a) Rare Thyroid Hormone Signaling Disorders (causing defect in thyroid hormone signaling and action), b) congenital hypothyroidism (a rare disorder for which all newborns in the EU are screened immediately after birth) and hyperthyroidism, and c) non-metastatic thyroid carcinoma.

For Patients & Families

Access to rare disease expertise without the need to travel is a core ERN objective. Our ePAGs contribute to all Endo-ERN activities.

Endo-ERN Newsletter

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Endo-ERN
Coordinating Center
Meibergdreef 9
1105 AZ AMSTERDAM
The Netherlands

info@endo-ern.eu

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Endocrine Conditions

Categories

About Us

Who we are

Information

For Professionals

Our Network

Research

Support Tools

Training & Education

For Members

Quick Links

Evaluation

For Patients

Patient information

ePAG information

Endo-ERN News

For Healthcare Professionals

Endocrine Conditions

Adrenal

Disorders of Calcium & Phosphate Homeostasis

Genetic disorders of Glucose & Homeostasis

Genetic Endocrine Tumour Syndromes

Growth & Genetic Obesity Syndromes

Hypothalamic and Pituitary Conditions

Sex Development & Maturation

Thyroid

For Patients & Families

Endo-ERN Newsletter

News

Events

Information

Social Links

Contact

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