AJOG Reviews: Case ReportsInfluence of maternal and fetal glucokinase mutations in gestational diabetes☆,☆☆
Section snippets
Case report
A 26-year-old woman was reviewed at 12 weeks of gestation during her first pregnancy because of persisting glycosuria. She was obese (body mass index, 39 kg/m2) and oral glucose tolerance testing confirmed impaired fasting glucose (fasting plasma glucose, 6.1 mmol/L; 1 hour, 12.2 mmol/L, and 2 hours, 6.9 mmol/L). She was treated initially with diet and subsequently insulin (up to 1 U/kg/d) from week 12. Glycemic control was assessed by serum fructosamine on 6 occasions between 18 and 35 weeks
Comment
We report 2 pregnancies in a patient with hyperglycemia resulting from a mutation in the glucokinase gene. Glucokinase mutations are found in approximately 3% of white women with gestational diabetes and are likely in patients with persistent fasting hyperglycemia, a small increment during an oral glucose tolerance test, and requiring insulin treatment during pregnancy.1 The mild phenotype (fasting blood glucose, 5.5-9 mmol/L from birth) means many of these patients will not be identified until
Acknowledgements
We thank Diabetes UK for funding the genetic analysis.
References (3)
- et al.
A high prevalence of glucokinase mutations in gestational diabetic subjects by clinical criteria
Diabetologia
(2000)
Cited by (97)
Screening for monogenic diabetes in primary care
2020, Primary Care DiabetesCitation Excerpt :Treating hyperglycaemia in the mother may have adverse effects on fetal growth with intrauterine growth retardation occurring. Those fetuses who do not have the mutation respond to maternal hyperglycaemia with hyperinsulinaemia and consequently macrosomia [49–51]. In the absence of readily available prenatal genetic testing, affected mothers with unaffected fetuses should therefore be monitored every 2 weeks after week 26 of pregnancy and treated with glucose lowering agents if fetal abdominal circumference rises above the 75th centile to avoid fetal macrosomia [52].
Maternal and Infant Outcomes in GCK-MODY Complicated by Pregnancy
2023, Journal of Clinical Endocrinology and MetabolismGenetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors
2023, Journal of Genetic Counseling
- ☆
Ghislaine Spyer, MBBS, is the recipient of a fellowship awarded by Novo Nordisk.
- ☆☆
Reprint requests: Ghislaine Spyer, MBBS, Department of Diabetes and Vascular Medicine, School of Postgraduate Medicine, Barrack Road,Exeter, UK.