Atray, A and Jahnavi, S and Thai, K and Hiremath, P and Anjana, R M and Unnikrishnan, R and Mohan, V and Radha, V (2013) Rabson Mendenhall Syndrome; a case report. Journal of Diabetology, 2 (4). pp. 1-5.
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A 13 year old girl presented with severe hyperglycemia. In spite of taking large doses of insulin, her sugars were uncontrolled. She had severe acanthosis nigricans, a feature of severe insulin resistance. There was associated growth retardation, dental dysplasia, excessive body hair and clitoromegaly. Genetic studies revealed a point mutation in Insulin receptor gene (INSR) confirming the diagnosis of Rabson Mendenhall Syndrome. This mutation was also detected in both her parents in heterozygous condition. She responded to insulin sensitizers administered along with high doses of insulin.
|Uncontrolled Keywords:||Diabetes; hirsuitism; insulin resistance; INSR gene; Rabson Mendenhall syndrome; mutations Diabetes, hirsuitism, insulin resistance, INSR gene, Rabson Mendenhall syndrome, mutations.|
|Subjects:||Genetics and Diabetes|
|Divisions:||Neonatal Diabetes |
Department of Diabetology
|Deposited By:||INVALID USER|
|Deposited On:||01 Aug 2013 11:00|
|Last Modified:||01 Aug 2013 11:00|
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