ESPE Abstracts

Introduction: Perrault syndrome is a rare autosomal recessive (AR) disorder (<1:1.000.000). Mutations in several genes, including HSD17B4, HARS2, CLPP, LARS2, TWNK, and ERAL1 have been associated with it, reflecting the genetic and clinical heterogeneity of this condition. It is characterized by bilateral mild to severe sensorineural hearing loss (SNHL) in both sexes and gonadal dysgenesis in 46,XX karyotype females. Ovarian dysfunction ranges from underdev...

A 12-month-old boy was admitted to the emergency department in Spain for a tonic-clonic seizure. The initial evaluation revealed metabolic acidosis (pH 7,33, bicarbonate 18,5 mEq/L), glycemia 50 mg/dL, sodium 135 mEq/L and potassium 7,3 mEq/L. After treatment for hypoglycemia, he was admitted for investigation. Physical examination was unremarkable. There was no family history of hereditary disorders nor consanguinity. Pregnancy was uneventful and the Portuguese neonatal scree...

Introduction: The ABCC8 gene encodes the SUR1 subunit of the ATP-sensitive potassium channel (K-ATP) in pancreatic beta cells, a key pathway in insulin secretion. Mutations in this gene are associated with neonatal diabetes (ND), and congenital hyperinsulinism (CHI).Description: Cases 1 and 2 Two male monozygotic twins, with no significant medical history, developed persistent non acidotic ketotic hyperg...