hrp0092p3-157 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Bardet-Biedl Syndrome: A Case Series

Mendes Ana Raquel , Lopes Andreia , Lobo Ana Luísa , Ferreira Cristina , Isolina Aguiar Maria , Tavares Cláudia , Meireles Carla

Introduction: Bardet-Biedl syndrome is a rare autosomal recessive disease, characterized by rod-cone dystrophy, truncal obesity, left foot polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, female genitourinary malformations, and renal abnormalities. The authors present 3 cases of Bardet-Biedl syndrome diagnosed during pediatric age.Case description: Case1: A 3-year-old girl with a f...

hrp0092p3-315 | Late Breaking Abstracts | ESPE2019

Associations between Pituitary Abnormalities and Treatment Response in Children with Growth Hormone Deficiency. First Multicenter Study in Portugal

Diamantino Catarina , Simões Ana Sofia , Borges Catarina , Costa Carla , Pereira Carla , Vieira Paula , Leite Ana Luísa , Monteiro Ana Cristina , Freitas Joana , Martins Sandrina , Bernardo Maria Teresa , Fonseca Marcelo , Mirante Alice

Background/Aims: Magnetic resonance imaging (MRI) is used to investigate the etiology of growth hormone deficiency (GHD). There is a close relationship between structural changes in the pituitary gland and clinical status.We aimed to investigate the relationship between MRI findings and clinical symptoms and treatment response in children with GHD.Methods: The study was conducted in nine Department...