ArticleDiabetic medicine : a journal of the British Diabetic Association2015
Successful pregnancy outcomes in a patient with type A insulin resistance syndrome.
Article in Diabetic medicine : a journal of the British Diabetic Association, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 11 citations in OpenAlex.
- Family with two novelClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Antenatal management ofJCEM case reports · 2026Article
- A Case Report: Treatment, follow-up, and literature review of type A insulin resistance syndrome caused by aFrontiers in endocrinology · 2026Review
- Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance.Frontiers in endocrinology · 2026Article
- Two Cases of Severe Insulin Resistance in Pregnancy: A New Diagnosis ofJCEM case reports · 2025Article
- Management of pregnancy with metformin: Case reports for genetic insulin resistance syndrome and a literature review for gestational and type 2 diabetes.Journal of diabetes investigation · 2025Review
- Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys).Endocrinology, diabetes & metabolism case reports · 2025Article
- Case report: Glycaemic management and pregnancy outcomes in a woman with an insulin receptor mutation, p.Met1180Lys.Clinical diabetes and endocrinology · 2024Article
- Case Report: Functional characterization of a missense variant inFrontiers in pediatrics · 2024Article
- Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Review
- Extreme insulin resistance during pregnancy: a therapeutic challenge.Endocrinology, diabetes & metabolism case reports · 2021Article
- Heterozygous Insulin ReceptorJournal of clinical research in pediatric endocrinology · 2020Article
- Long-term efficacy of the sodium-glucose cotransporter 2 inhibitor, ipragliflozin, in a case of type A insulin resistance syndrome.Journal of diabetes investigation · 2020Article
- Glucagon receptor inhibition normalizes blood glucose in severe insulin-resistant mice.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Successful pregnancy outcomes in a patient with type A insulin resistance syndrome.Diabetic medicine : a journal of the British Diabetic Association · 2015Article
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11 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundThe management of severe insulin resistance during pregnancy is challenging because of the increased risk of perinatal complications for both mother and fetus. We describe two consecutive pregnancies in a patient with severe insulin resistance caused by a mutation in the β subunit of the insulin receptor. CASE REPORT: A non-obese Japanese woman was diagnosed as having diabetes mellitus during her first pregnancy at age 31 years. She presented at 6 weeks' gestation with a fasting plasma glucose concentration of 15.1 mmol/l and an HbA(1c) level of 95 mmol/mol (10.8%). Fasting insulin concentration was high at 68.8 μU/ml, suggesting severe insulin resistance. Anti-insulin and insulin-receptor antibodies were both negative. Genetic analysis revealed an in-frame heterozygous deletion mutation (∆Leu(999)) in the insulin receptor gene. Despite large daily doses (up to 480 units per day) of insulin aspart and isophane, the patient's postprandial plasma glucose level exceeded 11.1 mmol/l. In the patient's second pregnancy, the addition of metformin at a dose of 2250 mg per day achieved tighter glycaemic control, with lower doses of insulin lispro and isophane (up to 174 units/day). Both newborns, who were found to carry the same mutation, were small for gestational age and developed transient hypoglycaemia after birth.
conclusionAdding metformin to the conventional insulin regimen effectively achieved tight glycaemic control with a lower dose of insulin. The mutation of the insulin receptor gene might underlie the intrauterine growth retardation of the newborns. To our knowledge, this is the first report of successful management of diabetes mellitus in a pregnant woman with type A insulin resistance syndrome.
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