Neonatal Diabetes Due to Insulin Gene Mutation

Çanga Betül Liv; Kıymet Karagöz; Eken Emine Şeyma; Vural Meltem Korkmaz; Baş Ahmet Yağmur; Erdal Kurnaz; Melikşah Keskin; Bala Keziban Aslı; Abdulkerim Kolkıran; Abdullah Sezer; Erdeve Şenay Savaş

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ESPE Abstracts (2024) 98 P2-73

ESPE2024 Poster Category 2 Diabetes and Insulin (35 abstracts)

Neonatal Diabetes Due to Insulin Gene Mutation

Betül Liv Çanga ¹ , Kıymet Karagöz ¹ , Emine Şeyma Eken ¹ , Meltem Korkmaz Vural ¹ , Ahmet Yağmur Baş ² , Erdal Kurnaz ³ , Melikşah Keskin ³ , Keziban Aslı Bala ³ , Abdulkerim Kolkıran ⁴ , Abdullah Sezer ⁵ & Şenay Savaş Erdeve ³

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¹Ankara Etlik City Hospital Pediatric Endocrinology Clinic, Ankara, Turkey. ²Ankara Etlik City Hospital Neonatology Clinic, Ankara, Turkey. ³Ankara Etlik City Hospital Pediatric Endocrinology Clinic; Universty of Health Sciences, Ankara, Turkey. ⁴Ankara Etlik City Hospital Pediatric Genetics Department, Ankara, Turkey. ⁵Ankara Etlik City Hospital Genetics Department, Ankara, Turkey

Introduction: Neonatal diabetes mellitus (NDM) is a rare monogenic disease associated with genetic defects in pancreatic beta cell number and/or function. It can be divided into two forms: transient neonatal diabetes mellitus (TNDM) and permanent neonatal diabetes mellitus (PNDM). TNDM is usually diagnosed within the first month after birth and usually regresses before the age of one year, but may reappear during adolescence. In contrast, PNDM is a lifelong disease. It is worth noting that INS gene mutations are a rare cause of PNDM. In this case, we report a case diagnosed with diabetes mellitus in the neonatal period and INS mutation was detected in genetic analysis.

Case: A 17-day-old male patient was admitted to our hospital with complaints of non-suction and vomiting. He was born at 40 weeks as 2400 g SGA. There was a 3rd degree consanguinity between the parents. On physical examination, he was lethargic, tachypnoeic, cachectic, dehydrated and had low subcutaneous adipose tissue. The patient's body weight was 2450 g (-2.63 sds), height was 54 cm (0.71 sds), and BMI was 8.4 kg/m2 (-4.68 sds). Laboratory tests revealed blood glucose 955 mg/dL and blood ketone 5 mmol/L. At the same time, the insulin level was 0.55 mU/L (2.6-24.9), while the c-peptide level was 0.45 mcg/L (1.1-4.4). The patient's pH value was 7.06, HCO3 was 5.7 mmol/L, pCO2 was 20.3 mmHg, base deficit was -26 mmol/L, and fluid and insulin infusion was started, which was considered to be severe diabetic ketoacidosis. Insulin infusion dose varied between 0.02 IU/kg/hour and 0.2 IU/kg/hour. Fructosamine levels were found to be 496 µmol/L (51-300), and diabetes autoantibodies were negative. The diabetic ketoacidosis picture showed signs of improvement on the second day of hospitalisation, and oral nutrition was started. Abdominal ultrasonography (USG) performed for pancreatic imaging was normal. The patient was followed up with multiple dose subcutaneous insulin treatment and continuous glucose monitoring. Genetic analysis of the patient for NDM revealed a heterozygous c.71C>A p.(Ala24Asp) missense variant in the INS gene.

Conclusion: It is worth noting that mutations in the insulin gene are rare causes of neonatal diabetes. In this case study, we aimto share the diagnosis and treatment process in a case with neonatal diabetes due to insulin gene mutation.

Keywords: Neonatal diabetes mellitus, Insulin gene mutation