ESPE Abstracts

Background: Noonan Syndrome (NS) is a genetic disorder mainly inherited in an autosomal dominant manner, which prevalence is estimated to range from 1:1,000 to 1:2,500 live births. Characteristic features of NS include short stature, distinctive craniofacial dysmorphisms (e.g., hypertelorism, low-set ears, broad and short neck), skeletal anomalies and cardiovascular defects. The genetic basis involves, most commonly, mutations in the PTPN11 gene, KRAS gene and...

Introduction: A condition that causes strong inhibition of growth hormone (GH) secretion is, among others, hyperglycemia; this phenomenon is used in the diagnosis of suspected GH excess by performing a GH inhibition test after oral administration of glucose (OGTT). In a healthy adult, it has been established that the nadir of GH concentration should not exceed 1 ng/ml (0.4 ng/ml in the case of sensitive tests). It is unclear whether the same standards should a...

Background: Growth hormone (GH) is a well-known factor affecting bone mineral density (BMD). Adults with GH-deficiency exhibit lower BMD, which improves with treatment. However, to date, little is known about the effects of GHD (growth hormone deficiency) on BMD as well as about BMD in idiopathic short stature (ISS) prepubertal children - who remain short, despite normal GH concentrations in stimulation testing.Aim: The ...