Unusual Glycemic Presentations in a Child with a Novel Heterozygous Intragenic INSR Deletion

Conclusion: We present a case of type A-IR, caused by a novelINSR deletion, presenting unusually early with transient neonatal diabetes, followed by episodes of hypoglycemia and hyperglycemia during later childhood. Early life presentations, including neonatal diabetes and PPHH, should lead to consideration of type A-IR.Horm Res Paediatr
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research