ECE2023 Eposter Presentations Diabetes, Obesity, Metabolism and Nutrition (355 abstracts)
A case series of monogenic diabetes in pregnancy
Sandhi Nyunt 1 , Rochan Agha-Jaffar 1 , Maud Hardy 2 , Simona Racaru 1 , Roberto Cunsolo 1 , Christina Yu 2 , Jayne Terry 2 , Shivani Misra 1 & Stephen Robinson 1
1Imperial College Healthcare NHS Trust, Metabolic Medicine, London, United Kingdom; 2Imperial College Healthcare NHS Trust, Maternal Medicine, United Kingdom
Monogenic diabetes is estimated to account for 1-2% of all diabetes cases diagnosed before the age of 45. It is caused by mutations in genes encoding for beta cell development, function and regulation. We present three cases of monogenic diabetes in pregnancy.
Case 1: Age 30, Para 3, White ethnicity. This individual was screened for a GCK mutation at 18 weeks gestation (third pregnancy) on the basis of family history. She required metformin and insulin to maintain glycaemic control. Fetal birth weight (FBW) measured 3.7 kg at 39 weeks’ gestation. Post-partum, the mutation was confirmed in the mother: she has mild persisting fasting hyperglycaemia.
Case 2: Age 40, Para 3, Turkish. This case represents a known homozygous HNF1A mutation. Insulin requirements increased during pregnancy. Delivery was expedited (concerns regarding pre-eclampsia) and her baby measured 2910 g at birth (37+2 weeks’ gestation).
Case 3: Age 30, Primip, Black African-Caribbean ethnicity, who was diagnosed aged 22 with mitochondrial genetic mutation (m.3243A4>G) following onset of blackouts and diabetes. Initially she had planned for pre-implantation genetic diagnosis but conceived spontaneously: she continues on her basal bolus regime during pregnancy. Chorionic villus sampling at 11+4 weeks detected 43% mitochondrial variant. Plans are in place for neonatal cardiac evaluation. Pregnancy may be challenging for women with diagnosed or undiagnosed monogenic diabetes. Our case series illustrates that monogenic diabetes can present in all ethnicities and that close oversight of glycaemic control and fetal monitoring are imperative. Additional maternal concerns about inheritance in offspring should be addressed with appropriate counselling.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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