Searchable abstracts of presentations at key conferences in endocrinology

ea0099ep246 | Pituitary and Neuroendocrinology | ECE2024

Sotos syndrome in two generations - a reminder that high suspicion is needed in milder phenotypes

Ponte Maria , Pataco Andreia , Medeiros Regina , Luisa Rodrigues Ana , Anselmo Joao

Introduction: The differential diagnosis of overgrowth includes constitutional tall stature, excess growth hormone (GH) and genetic syndromes. Sotos syndrome generally presents with overgrowth, dysmorphisms and early learning disabilities. Here in, we describe the diagnostic pathway of Sotos Syndrome in an adult male presenting with tall stature and mild morphological and cognitive features, prompted by his son’s clear manifestation of the classic triad.<p class="abst...