Premium
Identification of GCK‐ maturity‐onset diabetes of the young in cases of neonatal hyperglycemia: A case series and review of clinical features
Author(s) -
Hughes Alice E.,
De Franco Elisa,
Globa Evgenia,
Zelinska Nataliya,
Hilgard Dörte,
Sifianou Popi,
Hattersley Andrew T.,
Flanagan Sarah E.
Publication year - 2021
Publication title -
pediatric diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.678
H-Index - 75
eISSN - 1399-5448
pISSN - 1399-543X
DOI - 10.1111/pedi.13239
Subject(s) - medicine , diabetes mellitus , pregnancy , maturity onset diabetes of the young , presentation (obstetrics) , pediatrics , maturity (psychological) , genetic testing , endocrinology , obstetrics , type 2 diabetes , genetics , psychology , developmental psychology , biology
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.