title: Neonatal diabetes in an infant of diabetic mother: same novel INS missense mutation in the mother and her offspring.
abstract: Neonatal diabetes is defined as an uncontrolled hyperglycemic state occurring within the first 6 months of life. It is a rare disease with an incidence of 1 to 90,000-250,000. It is usually a disease of genetic origin in which insulin gene mutations play the main role in the disease process. A baby, born to a mother who had previously been diagnosed with type 1 diabetes mellitus at 14 months of age, had a high blood sugar level within the first few hours after birth and was subsequently diagnosed as having neonatal diabetes mellitus. Baby and mother were identified as having a novel heterozygous insulin missense mutation, p.C109R. Difficulties occurred in both follow-up and feeding of the baby. Without the addition of the mother's milk, an appropriate calorie milk formula and isophane insulin were used for the baby during follow-up. Multiple mechanisms are responsible in the pathogenesis of neonatal diabetes mellitus. Insulin gene mutations are one of the factors in the development of neonatal diabetes mellitus. If a resistant hyperglycemic state persists for a long time among babies, especially in those with intrauterine growth retardation whose mothers are diabetic, the baby concerned should be followed-up carefully for the development of neonatal diabetes mellitus.
authors.forename: Mehmet Adnan
authors.initials: MA
authors.lastname: Ozturk
authors.forename: Selim
authors.initials: S
authors.lastname: Kurtoglu
authors.forename: Osman
authors.initials: O
authors.lastname: Bastug
authors.forename: Levent
authors.initials: L
authors.lastname: Korkmaz
authors.forename: Ghaniya
authors.initials: G
authors.lastname: Daar
authors.forename: Seyma
authors.initials: S
authors.lastname: Memur
authors.forename: Hulya
authors.initials: H
authors.lastname: Halis
authors.forename: Tamer
authors.initials: T
authors.lastname: Günes
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
mesh_terms: D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D007328:Insulin / Q000235:genetics*; D009035:Mothers; D020125:Mutation, Missense
chemical_list: D007328:Insulin