ESPE Abstracts

Hypoplastic left heart syndrome (HLHS) is one of the most severe congenital heart defects. Despite medical progress, HLHS patients remain at risk of many complications of this cardiac defect and cardiac surgery, including growth failure. Some of them can be treated with recombinant human growth hormone (rhGH) fulfilling criteria of GH–deficiency (GHD) or having a history of intrauterine growth restriction or small for gestational age (SGA). We assessed the effectiveness ...

The cause of pseudo-hypoparathyroidism (PHP) is structural mutations or epigenetic modifications of the GNAS gene, which encodes the alpha subunit of the G protein.The aim: of the study is to compare the genotype of patients with GNAS mutation with their phenotype.Materials and Methods: 28 patients (16 F and 12 M) diagnosed with PHP were analyzed. Among them, 13 came from six unrelated Polish famil...

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome of unknown etiology, associated with high morbidity and mortality. The goal was to characterize endocrine symptoms of patients with ROHHAD syndrome treated in our centre in years 2009-2024. We identified and reviewed the charts of 4 patients with ROHHAD syndrome. The male to female ratio was 1:3. Definitive diagnosis of ROHHAD syndrome was made after alveolar...