ISSN 1306-0015 | E-ISSN 1308-6278
Case Report
Neonatal diabetes mellitus
1 Dr. Sami Ulus Kadın Doğum, Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi, Neonatoloji Anabilim Dalı, Ankara, Türkiye  
2 Dr. Sami Ulus Kadın Doğum, Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi, Çocuk Endokrinoloji Anabilim Dalı, Ankara, Türkiye  
Turk Pediatri Ars 2012; 47: 137-139
DOI: 10.4274/tpa.190
Key Words: ATP-sensitive potassium channel, genetic testing, insulin, neonatal diabetes mellitus, sulfonylurea
Abstract

Neonatal diabetes is a monogenic disease causing cellular and functional defects in pancreatic β-cells seen at first six months of life. It has an estimated prevalence of 1 in 400 000-500 000 live births. Mutations in KCNJ11, ABCC8, and INS are the cause of neonatal diabetes mellitus in about 50% of patients. We present a rare case of neonatal diabetes mellitus in the light of literature. A 32-day-old male infant born at 37th weeks of gestation with a 1400 g birth weight was referred us because of the persistent hyperglycemia. The patient presented with decreased subcutaneous adipose tissue whose body weight was 1460 g, bilateral criptorchidism and micropenis, and also III/VI° systolic murmur in the mesocardiac region. On laboratory investigations; blood glucose levels were high (340-431 mg/dL), serum and urine ketone were negative; insulin and C-peptid levels were low (<2 mU/mL and <0.1 ng/ml, respectively); anti-insulin, anti-islet cell and anti-glutamic acid decarboxylase antibodies were negative. Despite the regulation of diet and insulin therapy a good glucose control couldn’t be achieved, and he died on 83rd postnatal day because of an overwhelming infection. 

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