Ayşegül ZENCİROĞLU, Nurullah OKUMUŞ, Ramiz Coşkun GÜNDÜZ, Belma KARAGÖL SAYGILI, Mustafa AYDIN, Zehra AYCAN, Semra ÇETİNKAYA, Nilay HAKAN

Yenidoğanda diyabetes mellitus

Yenidoğan diyabeti, yaşamın ilk altı ayı içinde görülen, pankreas β-hücrelerinde işlevsel ya da hücresel bozukluklarla birlikte oluşan tek gen hastalığıdır. Sıklığı 400 000-500 000 canlı doğumda bir olarak bildirilmiştir. Olguların yaklaşık yarısından KCNJ11, ABCC8 ve INS genlerinde mutasyonlar sorumludur. Burada diyabet tanısı konulan bir yenidoğan olgusu nadir görülmesi nedeniyle literatür bilgileri ışığında sunuldu. Otuz yedinci gebelik haftasında 1 400 g ağırlığında doğan 32 günlük erkek bebek kan şekerlerinin yüksek seyretmesi nedeniyle sevk edildi. Vücut ağırlığı 1 460 g olan hastanın cilt altı yağ dokusunun azaldığı, iki taraflı inmemiş testisleri ve mikropenisi olduğu saptandı; mezokardiyak odakta III/VI° sistolik üfürüm duyuldu. Laboratuvar tetkiklerinde kan şekerleri yüksek (340-431 mg/dL), serum ve idrar ketonu negatif; insülin ve C-peptit düzeyleri düşük (sırasıyla

Neonatal diabetes mellitus

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 (

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