ESPE Abstracts

Background: Prader–Willi syndrome (PWS) is a rare genetic disorder associated with hyperphagia, and excessive weight gain. Patients with PWS are at elevated risk of developing morbid obesity and associated life-threatening complications. Although gut microbiota has been suggested to play a role in disease phenotypes, little is known about its composition and how it relates to hyperphagia.Objective: The aim of this ...

Background: Late-onset ornithine transcarbamylase deficiency (OTCD) is a clinical challenge due to its nonspecific symptoms and the potential for delayed treatment. Hyperammonemia caused by acute metabolism disorder leads to life-threatening encephalopathy. We presented a unique case of OTCD initially manifesting with hyperthyroidism, resulting in refractory hyperammonemia.Case report: A previously healthy 14-year-old Ch...

Keywords: growth hormone, small for gestational age, genetic defects; Silver-Russell syndrome; growth hormone deficiencyObjectives: To evaluate the influencing factors of GH treatment in Chinese short stature children born SGA.Methods: This was a single-center, retrospective, cross-sectional survey in China. Of 101 patients were identified born SGA and 66 short stature children bor...

Keywords: Sleep-Related Breathing Disorders, recombinant human Growth Hormone treatment, Prader–Willi syndrome, Toddlers.Background: Recombinant human growth hormone (rhGH) therapy is beneficial for children with Prader–Willi syndrome (PWS) in improving short stature and metabolism, but the effect of early rhGH treatment on respiratory and sleep parameters for the PWS children under three years old remains el...