Pedigree Investigation and Clinical Manifestation Analysis of Type A Insulin Resistance Syndrome: The Relationship between Insulin Level and Phenotype

Hong Chen, Yonghua Chen, Yanlan Fang, Chunlin Wang, Jianfang Zhu and Li Liang

Department of Pediatrics, The First Affiliated Hospital of Zhejiang University School of Medicine, China

^*Correspondance to: Li Liang 

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Abstract:

Background: Type A Insulin Resistance Syndrome (TAIRS) is a rare genetic disease, mainly caused by insulin receptor defects, characterized by a series of pathophysiological manifestations caused by severe insulin resistance. Unlike most people with insulin resistance, women with TAIRS are generally not overweight.Patient Description: In this report, we describe a girl who presented with severe acanthosis nigricans, along with high levels of fasting insulin with normal plasma glucose, suggested severe insulin resistance. An INSR mutation (P1205L) was identified in the proband and her family. Although there are also heterozygous mutations in the INSR gene in the four members of the paternal lineage, the clinical manifestations are very heterogeneous.Conclusion: The TAIRS family we reported had significant heterogeneity in genotype and clinical phenotype in the same genetic background and environment. We found that the clinical severity of family members was positively correlated with insulin levels. We believe that serum insulin levels may be able to assess the development of the disease.

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Cite the Article:

Chen H, Chen Y, Fang Y, Wang C, Zhu J, Liang L. Pedigree Investigation and Clinical Manifestation Analysis of Type A Insulin Resistance Syndrome: The Relationship between Insulin Level and Phenotype. Ann Clin Case Rep. 2018; 3: 1560.