ESPE Abstracts

Background: Pituitary gigantism is an extremely rare disorder characterised by GH excess that occurs before fusion of the epiphyseal growth plates.Case summary: A 13 years 6 month old Chinese boy presented to the paediatric endocrine outpatient clinic with tall stature. He was noted by his parents to have a continued growth spurt since 9 years old, and he required new shoes and clothes every school term. He had no headaches or visual disturbances. There ...

Case Description: We report a case of a 7-month old Vietnamese boy who presented with failure to thrive and a Cushingoid appearance from 1 month old. There was no history of exogenous steroid use. On examination, height and weight were <3rd centile. He was Cushingoid with motor development delay. There were multiple large café-au-lait lesions over the sacral region but no limb asymmetry to suggest fibrous dysplasia.En...

Case description: A 14-year old boy with autoimmune hepatitis who was on long term oral steroids for 10 years, presented with acute onset lower back pain without preceding trauma. Lumbar spine radiograph showed severe osteopenia and compression fractures of vertebrae T12 to L1. Bone mineral density T-score at the lumbar region was −4.9. Biochemically, there was hypocalcaemia and severe hypophosphataemia with adjusted calcium 2.03 (2.20–2.65) mmol/l and phosphate 0.8...

Background: SREAT is a rare entity in children, with about 60 cases described to date. It is characterised by acute encephalopathy, elevated anti-thyroid antibodies and exclusion of other causes of encephalopathy like infection, tumour, toxic or metabolic diseases. Typical presentations in children include behaviour changes, psychosis and seizures. The role of anti-thyroid antibodies in the pathogenesis is not clearly understood, and the titre level does not predict severity o...

Background: Persistent hyperinsulinaemic hypoglycaemia (HH) of infancy (PHHI) is a rare condition which presents with severe hypoglycaemia during the neonatal period. For medically unresponsive forms of diffuse HH, subtotal pancreatectomy was previously the only treatment option, with the potential consequences of recurrence of hyperinsulinism, diabetes mellitus and exocrine pancreatic insufficiency. The novel use of sirolimus treatment was recently reported in four infants wh...

Paraneoplastic Cushing syndrome is extremely rare. To date, there are few reported cases related to Wilms' tumor. We describe a patient who presented with Cushing syndrome and was subsequently found to have Wilms' tumor. Our patient is a 9 year-old boy, who presented with hyperphagia and excessive weight gain for 3 months. His abdomen was also progressively bigger. There was no ingestion of steroids or traditional medication. Subsequently he sought medical advice becau...