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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Continuous Monitoring Program

5-year evaluation
For Patients
For Patients

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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Patient information

What are European Reference Networks?

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Rare endocrine conditions

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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

IMPACT: Endocrine Connections Special Collection with Endo-ERN

Endo-ERN has partnered with Endocrine Connections to support the collaborative research efforts of our members in the network. In the

SAVE THE DATES: CPMS Panel Meetings

To help Endo-ERN members plan more effectively, recurring meetings have been set for some of the MTGs. see our manual

CONTRIBUTE: Rare Barometer Newborn Screening

The new Rare Barometer survey on newborn screening for rare diseases is now live! It should take no more than

OPPORTUNITY: Post-doc position at IRCCS Istituto Auxologico Italiano

Two exciting opportunities are available at one of Endo-ERN’s reference centres! Both positions are available at the laboratory of Prof.

CONTRIBUTE: Survey exploring testosterone methodology

You are kindly invited to participate in a survey exploring testosterone methodology in clinical units and laboratories throughout Europe. Endo-ERN

ERN Clinical Exchange Programme: Amsterdam to Basel

Inspiration and innovation were the driving forces behind Dr Dirk Jan Stenvers application to the ERN Exchange Programme. Dr Stenvers,

REGISTER webinar: Endo-ERN webinar HNF1B disease

Featuring a panel of experts from Helsinki University and Helsinki University Hospital the final programme is currently in development. Register

REGISTER webinar: Gonadal dysfunction in males with CAH

Register now for this informative webinar with a clinical perspective from a leading expert and and a discussion with patient

REGISTER webinar: Primary adrenal insufficiency – diagnosis, treatment and follow-up illustrated by cases

Save the date for this informative and wide-ranging webinar that will be presented by: Prof Eystein Husebye, Department of Clinical

Endorsed by Endo-ERN: XXIV National Congress of Italian Society of Paediatric Endocrinology and Diabetology (ISPED)

The ISPED event has been endorsed by Endo-ERN. A three day meeting November 6-8, 2023 with a comprehensive agenda featuring

REGISTER: European Consortium of Lipodystrophies (EClip) IV symposium

The programme for the next installment of EClip is now available! Featuring international speakers topics include: Mechanisms underpinning adipose dysfunction

Endo-ERN Endorsed: Transition Adolescence and young adults – Endocrine diseases management 6th Conference

Register now for this event organised and featuring Endo-ERN members focused on the topic of transition. Hosted in Rome, event

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

Hypothalmic 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

Endo-ERN Events

For Healthcare Professionals

Endocrine Conditions

Adrenal

Disorders of Calcium & Phosphate Homeostasis

Genetic disorders of Glucose & Homeostasis

Genetic Endocrine Tumour Syndromes

Growth & Genetic Obesity Syndromes

Hypothalmic and Pituitary Conditions

Sex Development & Maturation

Thyroid

For Patients & Families

Endo-ERN Newsletter

News

Events

Information

Social Links

Contact

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