ACANTHOSIS NIGRICANS, ABNORMAL FACIAL APPEARANCE AND DENTITION IN AN INSULIN RESISTANCE SYNDROME
2013
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 are
needed.
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