TY - JOUR
T1 - Severe Insulin Resistance Due To C.576CG (P.I119M) Mutation In The Insr Gene
T2 - Case Report
AU - Almazrouei, Raya A.
AU - Alkaabi, Juma
AU - Alkaabi, Fatima M.
AU - Alshamsi, Hanan
N1 - Publisher Copyright:
© 2017 Elsevier Inc.
PY - 2017/12/1
Y1 - 2017/12/1
N2 - Objective: Severe insulin resistance is frequently associated with mutations in insulin signaling. Methods: We report here a 26-year-old woman with severe insulin resistance due to insulin receptorpathy. Results: This patient had asymptomatic hyperglycemia (hemoglobin A1c >10% [86 mmol/mol]), hyperinsulinemia, amenorrhea, hyperandrogenism, clitromegaly, loss of subcutaneous fat in the upper arms and thighs, and swelling in the hands and legs. Her body mass index was 19.8 kg/m2. Her adiponectin level was the highest ever reported by the laboratory (98.0 μg/mL). Her hyperglycemia was not associated with ketoacidosis, neuropathy, nephropathy, retinopathy, or vasculopathy. She was equally well with and without insulin therapy. She improved on metformin and drospirenone/ethinyl estradiol. Insulin receptor gene sequencing revealed a homozygous missense mutation in exon 2 (c.576C>G [p.I119M]). Conclusion:The clinical course illustrates a rare form of severe insulin resistance and its management challenges.
AB - Objective: Severe insulin resistance is frequently associated with mutations in insulin signaling. Methods: We report here a 26-year-old woman with severe insulin resistance due to insulin receptorpathy. Results: This patient had asymptomatic hyperglycemia (hemoglobin A1c >10% [86 mmol/mol]), hyperinsulinemia, amenorrhea, hyperandrogenism, clitromegaly, loss of subcutaneous fat in the upper arms and thighs, and swelling in the hands and legs. Her body mass index was 19.8 kg/m2. Her adiponectin level was the highest ever reported by the laboratory (98.0 μg/mL). Her hyperglycemia was not associated with ketoacidosis, neuropathy, nephropathy, retinopathy, or vasculopathy. She was equally well with and without insulin therapy. She improved on metformin and drospirenone/ethinyl estradiol. Insulin receptor gene sequencing revealed a homozygous missense mutation in exon 2 (c.576C>G [p.I119M]). Conclusion:The clinical course illustrates a rare form of severe insulin resistance and its management challenges.
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U2 - 10.4158/EP151012.CR
DO - 10.4158/EP151012.CR
M3 - Article
AN - SCOPUS:85124223602
SN - 2376-0605
VL - 3
SP - e17-e21
JO - AACE Clinical Case Reports
JF - AACE Clinical Case Reports
IS - 1
ER -