impe0096p111 | Multisystem Endocrine Disorders | IMPE2023
Pereira Balbi Camilla
, Fernandes Madureira Maíra
, Tulio Maciel Albuquerque Cristiano
, de Souza Rajão Teixeira Juliana
, de Souza Lima Joziele
, Werneck Gabriela
, Genomes Project Consortium Rare
BLSS, male, second child of young, healthy, non-consanguineous parents, no family history of comorbidities. He was born by cesarean delivery due to polyhydramnios, 41 weeks of gestational age, with adequate weight and length. Apgar 7/9. Identified at birth micropenis: 1.5cm, bilateral auricular pit, sacral pit and 2mm atrial septal defect. At 4 days of life, he presented persistent neonatal jaundice (indirect bilirubin: 16.6mg/dL, direct bilirubin: 0.6mg/dL) and hypoglycemia (...