Endocrine Abstracts

Introduction: Abnormalities of the Internal Carotid Artery (ICA) are rare and agenesis has an estimated incidence of 0.01% in the general population. We here report a probable association with congenital hypopituitarism.Case report: A baby girl presented with respiratory distress after the birth and 1 month later, because of prolonged jaundice, was found to have low FT3, FT4, and TSH (FT3 was <2.3 pmol/l FT4 was <3.5 pmol/l, TSH which was <0....

Introduction: Several studies have described ethnic differences in HbA1c. Non-Caucasian patients have been found to have a higher HbA1c than the Caucasian ones. These differences have often been attributed to disparities in access to medical care or quality of the care. However differences in HbA1C in ethnic minorities could also relate to biological factors so we looked at mean levels of glycaemia. The aim of our study was to observe if there is a similar correlation between ...

Hypercalcaemia has been previously described in association with ketogenic diet (KD), occurring within 12 months of starting KD. We present a case where severe hypercalcaemia occured after four years on KD.Case: A 5.5-year-old boy referred for hypercalcaemia in context of early sepsis and background of Dynamin-1 gene mutation causing infantile epileptic encephalopathy. He had been commenced on KD at 18 months of age for drug-resistant seizures. A Deep Br...

Background: Achondroplasia, the most common skeletal dysplasia, carries a highest risk of developing foramen magnum stenosis (FMS), particularly in young children, leading to cervicomedullary compression and potentially fatal outcomes. Early detection of spinal cord changes through routine MRI screening can help reducing the morbidity and mortality in this population. Considering recent evidence, the bone team at Evelina London Children’s Hospital impleme...

Burosumab, monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We explored the effects of this treatment in a clinical setting, considering biochemistry, growth, deformity, functionality, quality of life, pain and fatigue.Methods: Clinical, biochemical, radiological and questionnaire data were reviewed at 6 and 12 months(m) for 8 children with XLH starting burosuma...