Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6

We report a male infant with transient neonatal diabetes mellitus (TNDM; MI M 601410), macroglossia, hypertelorism, umbilical hernia, inguinoscrotal he rnia and onychomycosis. Diabetes mellitus was diagnosed 10 days after birth and resolved after 6.5 months of treatment. Genetic investigation indicate d the presence of paternal uniparental disomy of chromosome 6 (UPD 6). The finding of paternal LTD 6 allows prediction of a transient, rather than per manent NDM, and no increased recurrence risk of TNDM in subsequent pregnanc ies. Therefore, finding of NDM should be a strong indicator for genetic tes ting.