Neonatal diabetes mellitus is a rare condition with diverse etiologies. Based on its clinical course, it can be divided into transient and permanent forms. Most cases of transient neonatal diabetes (TND) are due to imprinting aberrations at 6q24 either due to paternal uniparental isodisomy of chromosome 6, duplication at 6q24 of paternal origin, or loss of methylation within the differentially methylated region in the promotor region of ZAC/HYMA1 on the maternal allele. In 6q24 transient neonatal diabetes, hyperglycemia develops in the early newborn period and usually resolves within the first year of life. Affected newborns are commonly small for gestational age. In this report, we describe a unique case of TND due to paternal uniparental isodisomy of chromosome 6 associated with craniosynostosis and review the literature, including recent genetic advances that have increased our understanding of TND.
|Original language||English (US)|
|Number of pages||3|
|State||Published - May 1 2007|
- Transient neonatal diabetes
- Uniparental disomy of chromosome 6
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