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

impe0096p22 | Bone, Growth Plate and Mineral Metabolism | IMPE2023

Hypophosphatemic rickets associated with the BCS1L gene

Pereira Balbi Camilla , Fernandes Madureira Maíra , de Souza Lima Joziele , Werneck Gabriela , Bhavana Selvarajah , Andrew Titman , Joanne Blair

We present a 9 years old girl, L.B, referred to Pediatric Endocrinology due to progressive deformity in lower limbs since 7 years of age. This is a previously healthy child, no neonatal complications and adequate neuromotor development. At 2 years old, a thin hair appearance was noticed. She had a poor daily calcium intajke of 400mg/day and adequate sun exposure. At physical examination, it was noted severe short stature (-3.8 SDS), genus valgus, widening of wrists and ankles,...

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 (...

impe0096ep28 | Fat, Metabolism and Obesity | IMPE2023

Familial hyperchylomicronemia due to lipoprotein lipase deficiency: dietary management

Fernandes Madureira Maíra , Pereira Balbi Camilla , de Souza Rajão Teixeira Juliana , de Pinho Talma Cibelle , de Souza Lima Joziele , Werneck Gabriela

Familial hyperchylomicronemia is an autosomal recessive disorder, most often caused by mutation of the LPL gene, located on chromosome 8p22. It is characterized by severe hypertriglyceridemia secondary to chylomicron accumulation: in the absence of lipoprotein lipase (LPL) the hydrolysis of triglycerides is reduced as well as and their release into cells. It is a rare condition with an estimated incidence of 1:500,000 to 1:1,000,000 cases.Case re...