ESPE Abstracts

Introduction: Noonan syndrome (NS) is relatively common genetic disorder caused by mutations in the PTPN11 (50%), SOS1 (10-13%), and RAF1 (3-17%) genes responsible for disturbances in the activation of the RAS/MAPK signaling pathway. NS is characterized by facial dysmorphic features (90%), congenital cardiac disturbances and short stature (<3c) - the average final adult height is 162.5 cm for male and 153 cm for female. In some, but not all of the NS patien...

We present the case of a 16.5-year-old short, thin boy with Cushing disease. The first symptom of the disease was spinal pain and vertebral fractures attributed to osteoporosis. The patient was admitted to the clinic due to severe back pain. On dual X-ray absorptiometry (DXA), the Z-score TBLH was: -1.9, Z-score Spine: -4.2. The X-ray and magnetic resonance imaging (MRI) revealed multilevel fractures of the thoracolumbar vertebrae. The causes of this condition initially remain...

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...

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 ...