ESPE Abstracts (2019) 92 P2-66

ESPE2019 Poster Category 2 Diabetes and Insulin (43 abstracts)

New Mutation of the PDX-1 Gene Causes MODY Type 4 Diabetes in a 17 year old girl with Good Response to Oral Antidiabetics

Sofia Giatropoulou , Clemens Kamrath , Simone Krull & Stefan Wudy


Justus-Liebig University Hospital, Giessen, Germany


Background: Correct classification of diabetes mellitus in children and adolescents is essential for appropriate treatment.

Case report: A 17 year old female adolescent was referred to our clinic due to hyperglycemia. She complained of dizziness and nausea. Her blood pressure was 160 /100 mmHg; she had hyperglycemia ( 208 mg/dl), a glycosuria and a ketonuria without ketoacidosis. Some members of the family were on insulin therapy and others were treated with oral antidiabetics. In our clinic we started an intensified therapy with basal and bolus insulin, to which the patient responded well. Insulin requirement was about 1 IU/kg body weight and the measured HbA1c 2 months afterwards was 6 %. The diabetes autoantibodies were negative. Taking the family history into consideration as well, we proceeded to a molecular examination of the MODY genes. Our patient had a mutation in the PDX-1 ( Pancreatic and duodenal Homeobox 1 ) gene ( c.479A>T p.(Glu160Val)). Mutations in the PDX-1 gene are responsible for MODY diabetes type 4. This mutation however has not yet been detected in other MODY diabetes patients. We switched the patient from insulin to oral antidiabetics with glibenclamid at a low dose of 0,875 mg once daily. The blood sugar levels remained in normal range and there were no side effects. Two months later the HbA1c was 6,0 %. Unfortunately, the other members of the family did not agree to a molecular examination.

Conclusion: We suggest that the detected mutation of the PDX-1 gene is the cause of the MODY diabetes in our patient. It is important to recognize MODY diabetes type 4 in children and adolescents, because this type of diabetes can be treated with oral antidiabetics instead of insulin .

Volume 92

58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

European Society for Paediatric Endocrinology 

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