Endocrine Abstracts

Introduction: Prader–Willi syndrome is a genetic disorder characterized by hypotonia, intellectual disabilities, obesity and behavioral disturbance. Patients present with several neuroendocrinological abnormalities, such as growth hormone deficiency, hypogonadotropic hypogonadism, and hyperphagia, as the result of possible involvement of the hypothalamo-hypophyseal system. Diffusion tensor imaging (DTI) is a noninvasive MRI technique capable of providing quantitative indi...

BackgroundPrader Willi syndrome (PWS) is a genetic disorder with a broad clinical expression. Severe hypotonia with feeding difficulties during early infancy and delayed motor development are very characteristic. At older ages, common motor features in the PWS phenotype include decreased muscle strength, deficiencies in motor coordination and sequencing, gait disturbances and dyspraxic manifestations, with no clear pathophysiological mechanism yet identi...