ESPE Abstracts

Introduction: MRI imaging is the technique of choice in the diagnosis of children with hypopituitarism. Marked differences in MRI pituitary gland morphology suggest different etiologies of GHD, different clinical and endocrine outcome and different prognoses.Objective: To investigate the auxological, clinical and hypothalamic pituitary-MRI features in children with non-acquired growth hormone deficiency (GHD); and determ...

Introduction: Familial glucocorticoid deficiency (FGD), also known as hereditary resistance to ACTH, is a rare autosomal recessive disease characterized by an isolated deficiency of glucocorticoids. We report the case of a child who presented with type 1 FGD due to mutation of the ACTH receptor, melanocortin-2 receptor (MC2R), associated with monosomy 9p.Case presentation: A 1-day-old female patient was born to consangui...

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...

Introduction: Several predictive factors of response to rGH have already been described in the literature such as age and height at the beginning of treatment, rGH dose and parental height status. However, few data exist on the predictive value of pre-therapeutic data on the response to rGH.The main objective of the study: is to identify predictive factors of the rGH response in children with GHD, with a particular inter...

Introduction: Serum levels of insulin growth factor (IGF1) could be a good indicator of growth hormone (GH) sensitivity and potentially GH therapy responsiveness. Few studies analyzed IGF1 generation test as predictor factor of the growth response to GH treatment in children with growth hormone deficiency (GHD) but results were controversial.Objective: The aimof the study was to evaluate the IGF-I generation test (IGF-I ...