ESPE Abstracts

Background: Young adult patients with childhood-onset GH deficiency (GHD) whose GH replacement therapy (GHRT) is discontinued exhibit negative metabolic and physiological effects, reversible through GHRT.Objective and hypotheses: To report the characteristics and 5-year GHRT in adults with childhood-onset GHD.Method: Analysis of the subgroup of adults with childhood-onset GHD included between March 2003 and October 2006 in KIMS. In...

Context: Mosaicism is a feature of several inherited tumor syndromes but is rarely systematically looked for in routine. MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors affecting parathyroids, pancreas, and anterior pituitary most of the time, due to inactivating mutations in the MEN1 gene. Few cases of mosaicism in Multiple Endocrine Neoplasia type 1 (MEN1) have been described. MEN1 mosaicism is probably under-diag...

Background: Twenty-three national healthcare networks for rare diseases were identified in 2014 as part of the French scheme on rare diseases. The rare endocrine disease national healthcare network FIRENDO (www.firendo.fr) includes six centers of reference with complementary fields of expertise certified between 2005 and 2006, 30 centers of competence covering all French regions, 18 research and 37 diagnostic laboratories, 5 national learned...