Endocrine Abstracts

Noonan syndrome (NS) is one of the most common non-chromosomal syndromes seen in children with congenital heart disease. Half of them have mutations in the PTPN11 gene, a gene that has a role in modulating cellular proliferation, differentiation, migration and it is required in several developmental processes. Height is not affected at birth, but during childhood short stature is present in about 80% with a less percentage being short at adult age due to delayed bone age and g...

Background: Child obesity has become a global health problem. The younger treatment starts the better outcome, but few treatment modalities are efficient. Whether obese children have an increased risk of neurodevelopmental disorders with worse treatment outcome is not studied. Objectives: To investigate the prevalence of ADHD, autism spectrum disorder (ASD) and other neurodevelopmental disorders in obese children. As a second objective gender differences were evaluated.<p ...

Background: Some previous reports point out undescended testes (UT) to be the main course of impaired fertility in males with Noonan syndrome (NS). Whether abnormities in gonadal function are present during prepuberal years or appear during pubertal development has not been investigated previously.Objective: To study the gonadal development during prepubertal and pubertal years in NS males.Patients: Twelve short NS males were follo...

Objectives: Congenital heart disease, especially pulmonary stenosis, is a frequent comorbidity in patients with Noonan syndrome (NS). Patients with NS are also at increased risk of childhood leukaemia and solid tumours. Among solid tumours, brain tumours, including glioneuronal tumours, have been described in younger patients but remain rare. Current safety data do not indicate an association of growth hormone (GH) therapy with increased risk for development or progression of ...

Objective: To describe real-world safety data on growth hormone therapy (GHT) in paediatric patients with Noonan syndrome (NS) who were enrolled in NordiNet® IOS and the ANSWER®Program.Introduction: Patients with NS have a high prevalence of cardiac defects and an increased risk for leukaemia and certain malignancies compared to the general population. Current safety data do not indicate an association of GHT with worsenin...