Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review

This study illustrates that the same genotype can give a biphasic phenotype in the same person or a reverse phenotype in the same family. Wider awareness of this association is necessary in pediatrics to establish annual monitoring of patients who have presented HH, and during maternity to screen diabetes and optimize genetic counseling and management of pregnancy, childbirth, and the newborn.PROSPERO registration: CRD42020178265.
Source: Reviews in Endocrine and Metabolic Disorders - Category: Endocrinology Source Type: research