Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p111 | Multisystem Endocrine Disorders | IMPE2023

Congenital hypopituitarism and hyperinsulinism associated with FOXA2 deletion

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 (...