P-28 A CASE OF MODY TYPE 9 WITH C.89T>C MUTATION IN PAX4 GENE
Fuat Mısıroğlu, Zeynep Elüstü Belten, Özge Şahin Kimyon, Meral Mert, Hamide Piskinpasa, Sema Çiftçi, Ilkay ÇakırAbstract
Introduction
Maturity-onset diabetes (MODY) is a rare type of diabetes mellitus (DM) with autosomal dominant inheritance that occurs at a young age, constituting 1-2% of all DM cases. Most MODY cases are misdiagnosed as type 1 or type 2 DM. MODY9 is a rare type caused by a mutation in the Paired box gene 4 (PAX4). We aimed to present a case that had been followed for eight years, initially diagnosed as type 1 DM, but later diagnosed with MODY type 9 after a PAX4 gene mutation was detected as a result of genetic analysis.
Clinical Case
A 23-year-old male patient had been followed up for eight years with a diagnosis of type 1 DM. In the evaluation, his body mass index was normal, fasting glucose level was 143 mg/dl, HbA1c was 9.5%, C peptide level was 607 pmol/L (370-1470 pmol/L), low-density lipoprotein was 112 mg/dl, and triglyceride was 60 mg/dl. He did not show signs of diabetic neuropathy or retinopathy and had no history of hospitalization due to diabetic ketoacidosis. His father also had DM. Because the patient was diagnosed at a young age, type 1 DM was accepted without checking insulin autoantibodies at the time of diagnosis, and intensive insulin therapy was started. Due to the patient's age, normal body mass index, normal C peptide level, family history and genetic evaluation was requested for monogenic diabetes diseases. As a result of the analysis performed in the patient's genetic laboratory, the C.89T>C missense variant in the PAX4 gene was detected. As a result of clinical findings and gene analysis, the patient was diagnosed with MODY type 9.
Conclusion
PAX4-MODY typically presents between ages 6 to 44 and is more common in men. The severity of diabetes may vary, with some patients experiencing diabetic ketoacidosis (DKA), impaired glucose tolerance, and potential complications such as renal or retinal issues, or end-stage renal failure. Treatment for MODY9 primarily involves a diabetic diet, physical activity, insulin therapy, and possibly oral hypoglycemic agents, tailored to the individual's disease progression.