| CASE REPORT |
|
| Year : 2013 | Volume
: 4
| Issue : 2 | Page : 2 |
|
|
Rabson Mendenhall Syndrome; a case report
A Atray, S Jahnavi, K Thai, P Hiremath, RM Anjana, R Unnikrishnan, V Mohan, V Radha
Dr. Mohan's Diabetes Specialities Centre and Madras Diabetes Research Foundation, WHO Collaborating Centre for Non-communicable Diseases Prevention and Control, IDF Centre for Education, Chennai - India
Correspondence Address:
V Mohan
Chairman and Chief Diabetologist Dr. Mohan's Diabetes Specialities Centre and Madras Diabetes Research Foundation, WHO Collaborating Centre for Non-communicable Diseases Prevention and Control, IDF Centre for Education, Chennai - India
 Source of Support: None, Conflict of Interest: None
|
|
|
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. |
|
|
|
| [PDF]* |
|
 |
|
