title: Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6.
abstract: We report a male infant with transient neonatal diabetes mellitus (TNDM; MIM 601410), macroglossia, hypertelorism, umbilical hernia, inguinoscrotal hernia and onychomycosis. Diabetes mellitus was diagnosed 10 days after birth and resolved after 6.5 months of treatment. Genetic investigation indicated the presence of paternal uniparental disomy of chromosome 6 (UPD 6). The finding of paternal UPD 6 allows prediction of a transient, rather than permanent NDM, and no increased recurrence risk of TNDM in subsequent pregnancies. Therefore, finding of NDM should be a strong indicator for genetic testing.
authors.affiliation: Department of Endocrinology, Mother and Child Health Care Institute of Serbia, Belgrade, Yugoslavia. majkaidete@ptt.yu
authors.forename: T
authors.initials: T
authors.lastname: Milenkovic
authors.forename: D
authors.initials: D
authors.lastname: Zdravkovic
authors.forename: R J
authors.initials: RJ
authors.lastname: Gardner
authors.forename: M
authors.initials: M
authors.lastname: Ignjatovic
authors.forename: B
authors.initials: B
authors.lastname: Jankovic
mesh_terms: D001786:Blood Glucose / Q000378:metabolism; D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D003920:Diabetes Mellitus / Q000151:congenital / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D007328:Insulin / Q000627:therapeutic use; D008297:Male
chemical_list: D001786:Blood Glucose; D007004:Hypoglycemic Agents; D007328:Insulin