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Article

A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome.

Journal of pediatric endocrinology & metabolism : JPEM - 22 May 2020

Aghababaie Arameh S, Ford-Adams Martha, Buchanan Charles R, Arya Ved B, Colclough Kevin, Kapoor Ritika R

Abstract excerpt

Background Inherited severe insulin resistance syndromes (SIRS) are rare and can be caused by mutations in the insulin receptor gene (INSR). Case presentation A 12-year-old Jamaican girl with a BMI of 24.4 kg/m2 presented with polyuria and polydipsia. A diagnosis of T1DM was made in view of hyperglycaemia (18 mmol/l), and elevated Hba1C (9.9%), and insulin therapy was initiated. Over the next 2 years, she...

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PMID: 32441669
DOI: 10.1515/jpem-2019-0503

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