Rare endocrine conditions include too much, too little or inappropriate hormonal activity, hormone resistance, tumour growth in endocrine organs, or diseases with consequences for the endocrine system. The epidemiological distribution is highly variable from ultra-rare, rare, to low-prevalence conditions. Patients with a low-prevalence disorder may require highly specialised care from a multidisciplinary team led by an endocrinologist.
Endo-ERN has established eight main thematic groups covering the full spectrum of congenital and acquired conditions. These are: adrenal disorders; disorders of calcium and phosphate homeostasis; disorders of sex development and maturation; genetic disorders of glucose and insulin homeostasis; genetic endocrine tumour syndromes; disorders of growth and genetic obesity syndromes; pituitary disorders; and thyroid disorders.
The ERN builds on the work of several existing European networks, including those established through the European Society of Endocrinology (ESE) and European Society for Paediatric Endocrinology (ESPE), and those developed through COST Actions.
Endo-ERN aims to deliver improved diagnostic trajectories, treatment, quality of care and measurable outcome for patients with rare endocrine conditions by facilitating multidisciplinary and cross-border collaboration and education and by listening to the patient.