ESPE Abstracts

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...

Case presentation: A 17 month old female child was transferred to our hospital from another hospital where she was admitted to the intensive care unit (ICU) due to cerebral edema, diabetic acidosis and severe dehydration. The patient had fever, polyuria, polydipsia and vomiting presented four days before admission. At her admission she was unconscious with dilated pupils, no reaction to painful stimuli (GCS 4/15) and Kussmaul breathing. Her initial blood glucose level was 391 ...

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...