ESPE Abstracts

We report the case of a female newborn, first child of healthy, non-consanguineous parents, born at 42+0 weeks of gestation, who was admitted 21 h after birth with severe hypoglycemia, hypothermia, decreased muscle tone, inspiratory stridor and edema. The course included poor feeding and failure to thrive, hyperbilirubinemia and cholestasis. Infectious or metabolic diseases were ruled out by clinical and laboratory investigations. Hormonal evaluation confirmed the diagnosis of...