Endocrine Abstracts

Background: Neonatal diabetes is an exceedingly rare condition, defined by the presence of persistent hyperglycaemia in the first months of life. It is sub-categorised into transient neonatal diabetes mellitus (TNDM) which resolves early and permanent neonatal diabetes mellitus (PNDM), which requires lifelong treatment. Transient neonatal diabetes is reported to have a global incidence of between 1/95 000–1/400 000 births. At present, there are less than 100 patients diagnosed with neonatal diabetes in the UK. The infant we describe was born at 39+3 weeks gestation and delivered via spontaneous vaginal delivery. She had a low birth weight of 2.28 kg and was asymmetrically growth restricted. She had hypoglycaemia monitoring which was normal and was discharged home on day 3 of life. She was reviewed in the community by the midwife on day 5 with a 16.6% weight loss and was found to be emaciated on examination. Her blood glucose was 37.8 mmol/l and her cortisol level was 200 nmol/l. Her C-Peptide level was < 0.10. She initially received intravenous insulin (requiring doses of 0.02–0.05 iu) with frequent adjustment of insulin dose required due to challenging glycemic control. After a period of adequate weight gain she was commenced on insulin via a subcutaneous pump which subsequently allowed her to transition to general paediatric care prior to discharge home. She had an echocardiogram which demonstrated a structurally normal heart and cranial ultrasound scan which was normal. Of note, there was a finding of a hemivertebra at T3 on chest x-ray and a finding of a conjugated hyperbilirubinaemia from birth, which slowly improved, with investigations for cholestasis unremarkable, including a normal liver and biliary ultrasound. Her genetic testing revealed she was positive for the 6q24 gene locus for transient neonatal diabetes. At present it is thought that the findings of a hemivertebra and conjugated hyperbilirubinaemia may well be linked to her genetic finding, As the 6q24 locus is associated with abnormalities in other systems. This is of particular interest as hemivertebra in neonates has a recognised association with maternal diabetes but the literature regarding an association between transient neonatal diabetes and hemivertebra is not well described at present.