Endocrine Abstracts

Generalised arterial calcification of infancy (GACI) is a rare genetic disorder caused by inactivating variants in the ENPoc10.6 with estimated incidence of 1:200,000 pregnancies. Mortality estimated at 55% within first 6 months. It is characterised by arterial intimal calcification leading to stenosis affecting all major vessels. The index case presented with hypo-phosphataemic rickets at 18 months of age. Genetic testing demonstrated a novel mutation in Ectonucleotide pyroph...

Background: Hypoglycaemia is a common critical condition in paediatric emergencies, with diverse aetiologies including metabolic disorders and endocrine dysfunctions. Adrenal insufficiency is a life-threatening cause, that requires prompt diagnosis and intervention. This case study presents a rare incidence of hypoglycaemia secondary to adrenal failure in a paediatric patient with Kearns-Sayre Syndrome (KSS), a mitochondrial disorder affecting multiple systems. <p class="a...