Identification of GCK-maturity-onset diabetes of the young in cases of neonatal hyperglycemia: A case series and review of clinical features.
Alice E HughesElisa De FrancoEvgenia GlobaNataliya ZelinskaDörte HilgardPopi SifianouAndrew T HattersleySarah E. FlanaganPublished in: Pediatric diabetes (2021)
Heterozygous mutations in GCK result in a persistent, mildly raised glucose from birth, but it is usually diagnosed in adulthood as maturity-onset diabetes of the young (MODY), where hyperglycemia is often an incidental finding. The hyperglycemia of GCK-MODY is benign and does not require treatment, but is important to be aware of, particularly in females where it has implications for managing pregnancy. We present three cases of neonatal hyperglycemia resulting from a heterozygous mutation in GCK, illustrating its clinical presentation and evolution in early life. In summary, as with adults, neonatal hyperglycemia is an incidental finding, does not require treatment and has no adverse consequences for health. Neonates and their parents should be referred for genetic testing to confirm the diagnosis, avoid a label of diabetes and enable pregnancy counseling for females found to be affected.
Keyphrases
- early life
- type diabetes
- cardiovascular disease
- glycemic control
- diabetic rats
- healthcare
- preterm birth
- early onset
- pregnancy outcomes
- risk assessment
- depressive symptoms
- emergency department
- pregnant women
- metabolic syndrome
- blood pressure
- adipose tissue
- skeletal muscle
- oxidative stress
- insulin resistance
- climate change
- weight loss
- human health
- middle aged
- men who have sex with men
- health promotion
- gestational age
- adverse drug