hrp0089p2-p056 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

First Reported Cases of a Novel Variant of GNAS 1 Gene

Fafoula Olga , Panagiotakou Argyro , Grivas Grigorios , Fryssira Eleni , Kosteria Ioanna , Korovessi Paraskevi , Kostaridou Stavroula

Background: GNAS 1 gene (guanine nucleotide binding protein, alpha stimulating) encodes the alpha subunit of the stimulatory guanine nucleotide-binding protein (G-protein). Variations in the GNAS 1 can cause several disorders including Pseudohypoparathyroisism Type 1A (PHP1A), Type 1B (PHP1B), Type 1C (PPHP1C), Progressive Osseous Heteroplasia (POH), Pseudopseudohypoparathyroidism (PPHP) and McCune-Albright syndrome (MAS).Objectives: To report 2 patients...

hrp0089p3-p376 | Thyroid P3 | ESPE2018

An Impressive Recovery of Arrested Growth and Puberty in a 13 Year Old Boy after Being Treated for Simultaneously Diagnosed Severe Hypothyroidism and Coeliac Disease

Fafoula Olga , Panagouli Eleni , Panagiotakou Argyro , Mpeni Maria , Georgila Chrisitina , Korovessi Paraskevi , Kostaridou Stauroula

Background: Individuals with celiac disease are more likely to develop autoimmune thyroid disease compare to the general population and vice versa. Undiagnosed in childhood and adolescence, both diseases compromise final height. Clinical experience shows that near complete catch-up growth is possible in infants and young children, but not in children near or in puberty.Objectives: To report on the impressive acceleration of arrested growth in a 13 year o...