Using the classification of endocrine conditions, Endo-ERN established eight main thematic groups (MTGs). These MTGs are organ and/or physiology based, cover care throughout the entire lifespan of patients and the total spectrum of congenital and acquired conditions.
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.
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.
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.
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.
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.
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.
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.
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.
According to usual classification of endocrine conditions, specific diagnostic and therapeutic approaches and composition of the required multidisciplinary teams, eight established main thematic groups (MTG) were 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. The MTGs are:
Within MTGs, several sub-thematic groups have been defined on the basis of presence of hormonal overproduction, insufficiency, resistance and/or tumour growth.
With these sub-thematic groups, Endo-ERN envisions to be able to adress the disease specific conditions unmet needs and highly specialised interventions required for patients with related conditions.