Searchable abstracts of presentations at key conferences in endocrinology

ea0051oc4.3 | Oral Communications 4 | BSPED2017

Novel FOXA2 mutation causes hyperinsulinism, hypopituitarism with craniofacial dysmorphism and endoderm-derived organ abnormalities

Giri Dinesh , Vignola Marial Lillina , Gualtieri Angelica , Scagliotti Valeria , McNamara Paul , Peak Matthew , Didi Mohammed , Gaston-Massuet Carles , Senniappan Senthil

Background: Congenital hypopituitarism (CH) is characterised by the deficiency of one or more pituitary hormones and can present alone or in association with complex disorders. Congenital hyperinsulinism (CHI) is a disorder of unregulated insulin secretion despite hypoglycaemia that can occur in isolation or as part of a syndrome. The underlying genetic etiology causing the complex phenotype of CH and CHI is unknown.Patient and Methods: A female baby bor...