查看文章

Transient Neonatal Diabetes Mellitus (TNDM) due to genetic aberrations at 6q24 is the commonest cause of diabetes presenting within the first week of life. It affects between 1:200,000 and 1:400,000 live births with the majority of infants born small for gestation age. TNDM predisposes to diabetes mellitus in later life.

We report on the clinical presentation of the largest worldwide cohort of 6q24 TNDM cases.

164 cases were analysed. The mean age of presentation was 8 days with a mode of 1 day and maximum age of presentation of 90 days. On average, babies recovered by 4.5 months with a mode of 2 months. Birth weight had a normal distribution with a median of 1987g and ranges from 3370g to 1050g. Most babies in the study were born at term and only 13 babies were born pre-term. 33.5% had paternally inherited duplications at 6q24, 29.3% had a maternal methylation mutation, and 37.2 …