ESPE Abstracts

Introducción: Beckwith-Wiedemann syndrome (BWS) is a congenital disorder that includes features such as overgrowth, macroglossia, abdominal wall defects, neonatal hyperinsulinism, lateralized overgrowth and predisposition to embryonal tumors during infancy. BWS may be clinically diagnosed by a scoring system and genetic diagnosis is mainly focused to imprinting disorders on the 11p15.5 region. The presence of pathogenic inactivating variants on the mate...

GHD diagnosis in neonates and infants is a challenge owing to the fact that GH pharmacological stimulation tests (GHST) are not approved at this age. In a retrospective study, we found that a random GH<6.5 µg/L confirmed GHD diagnosis in neonates with clinical suspicion of GHD with high diagnostic accuracy (1). The accuracy of GH and its surrogates of action have not been set for infants with current standardized immunoassays.Objective</...

Introduction: Comprehensive evaluation of the gonadotropic axis, including pituitary and gonadal assessment, using a diagnostic test with aGnRH (Triptorelin) could be useful in the differential diagnosis between hypogonadotropic hypogonadism (HH) and self-limited delayed puberty (SLDP) or amenorrhea of unknown cause.Objective: To assess the performance of the Triptorelin test for the diagnosis of HH and to compare it wit...