Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
Vol. 23, No. 3, 2013, pp. 363-365
Bioline Code: pe13069
Full paper language: English
Document type: Case Report
Document available free of charge
Iranian Journal of Pediatrics, Vol. 23, No. 3, 2013, pp. 363-365
© Copyright 2013 - Iranian Journal of Pediatrics
Acanthosis Nigricans, Abnormal Facial Appearance and Dentition in an Insulin Resistance Syndrome|
Zaridoust, Ahya; Rabbani, Ali; Sayarifard, Fatemeh; Thiel, Christian T. & Rezaei, Nima
Background: Insulin resistance syndromes are a heterogeneous group of disorders with variable clinical
phenotypes, associated with increased blood glucose and insulin levels.
Case Presentation: Herein, a 10-year old girl with abnormal face and dentition is presented. She has suffered
from diabetes mellitus type I since she was 6 years old. Hyperglycemia did not respond to age appropriate
insulin dosage; therefore, insulin dosage was increased, but did not lead to appropriate glycemic control.
Twenty two exons of insulin receptor gene (INSR), on short arm of chromosome 19, were sequenced, but no
identifiable disease causing mutation was detected.
Conclusion: Although a rare mutation within the intronic or promoter region has not been excluded in this
case, further molecular studies on patients with insulin resistance syndromes associated with certain features
Insulin Resistance Syndrome; Hyperglycemia; Gene; Mutation; Genetic Polymorphism
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