ESPE Abstracts

Background: Tall stature is defined as height >02 S.D. above the population mean. The most common cause is normal familial tall stature, but some cases are pathological and require special attention.Observations: We report four clinical cases corresponding to four diagnostic categories. We describe the diagnostic approach and difficulties encountered through these cases.Case 1: A boy aged 25 months was referred f...

Background: Growth hormone deficiency (GHD) in children is a rare condition. It may be idiopathic or may develop as a consequence of congenital or acquired organic pathology of the hypothalamic-pituitary axis. GHD can be partial or part of a combined pituitary deficiency. Brain magnetic resonance imaging (MRI) is very useful in establishing the etiology of GHD and predicting its severity.Study aims: To investigate the re...

Introduction: Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disease caused by the loss of expression of paternally inherited, imprinted genes on chromosome 15q11.2 q13.1, comprising multiple cognitive, behavioral and endocrine abnormalities. The estimated birth prevalence of PWS is approximately 1/15,000 - 25,000 live birthsObjective: The aimof this study was to identify clinical features and endocrine...