Endocrine Abstracts

Background: A 5 year old boy who had been born at 29 weeks gestation presented to the paediatrics clinic with abnormally chubby cheeks. Our patient’s great-grandmother had had a similar appearance and his uncle had recently been diagnosed with giant cell granuloma of the jaw. After extensive imaging and genetic work-up, our patient was diagnosed with cherubism: a condition so named because of the resemblance to cherubic putti in Italian art.Cherubis...

Background: Children with Prader–Willi syndrome (PWS) have a predictable pattern of weight gain, with obesity beginning in early childhood and worsening as they get older. They have low tone and as a result their energy requirements are lower (typically 60% estimated average requirement for energy (EAR)) than age matched controls. We present three case studies of children with PWS who have been following a modified macronutrient diet, with significant positive changes to ...

Introduction: PATRO children is an international, non-interventional, longitudinal study of the long-term safety of a biosimilar recombinant human growth hormone (Omnitrope, Sandoz). In particular, the study assesses the diabetogenic potential of Omnitrope and the risk of malignancies. The long-term efficacy is a secondary objective of the study. Here we present safety and efficacy data of UK patients recruited since 2008, following an interim analysis in May 2017.<p class...

Background: Low vitamin D levels have been linked to stunted growth, lower bone mineral density and health. Optimal levels of vitamin D are not adequately defined and guidance regarding supplementation is limited.Aim: To identify vitamin D levels in a cohort of Caucasian children aged 0–16 years, and describe how preterm birth, obesity, age and malabsorptive conditions correlate with sub-optimal levels.Methods: We obtained 368...

Introduction: Congenital hyperinsulinism (CHI) is a rare disease characterized by an unregulated insulin release, leading to hypoglycaemia. It is the most frequent cause of persistent and severe hypoglycaemia in the neonatal period and early childhood. FOXA2, a beta-cell transcription factor is localized at the cytogenetic location 20p11.2 and is critical for the development of pancreas and pituitary gland. We describe a child with 20p11.21 deletion e...

A 6 month boy with chronic vomiting and severe weight faltering (birth weight 50th to 75th centile dropped to 0.4th centile) originally attributed to gastro-oesophageal reflux was admitted after a period of poor urine output and found to have severe hypernatraemia (Na 168 mmol/l, K 4.1 mmol/l, Urea 16.2 mmol/l, Creatinine 54 umol/l) with high plasma osmolality (330 mosm/kg) and inappropriately low urine osmolality (130 mOsm/Kg). Renal USS was normal with slightly small kidneys...