Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2.

ABSTRACT:

Context

Persistent hypoglycemia in the newborn period most commonly occurs as a result of hyperinsulinism. The phenotype of hypoketotic hypoglycemia can also result from pituitary hormone deficiencies, including growth hormone and adrenocorticotropic hormone deficiency. Forkhead box A2 (Foxa2) is a transcription factor shown in mouse models to influence insulin secretion by pancreatic β cells. In addition, Foxa2 is involved in regulation of pituitary development, and deletions of FOXA2 have been linked to panhypopituitarism.

Objective

To describe an infant with congenital hyperinsulinism and hypopituitarism as a result of a mutation in FOXA2 and to determine the functional impact of the identified mutation.

Main outcome measure

Difference in wild-type (WT) vs mutant F

SUBMITTER: Vajravelu ME 

PROVIDER: S-EPMC6276717 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature