ESPE Abstracts

Congenital hyperinsulinism (CHI) is characterised by the dysregulation of insulin secretion leading to severe hyperinsulinaemic hypoglycaemia. Recent advances in molecular genetics have provided unique insights into understanding how insulin secretion becomes unregulated in CHI. Abnormalities in the genes ABCC8/KCNJ11 (encoding the two components SUR1/KIR6.2 of the pancreatic β-cell KATP channel respectively) is the most common genetic causes of CHI. Histologically there ...

Hypophosphatasia (HPP), an inborn-error-of-metabolism, has broad-ranging severity caused by inactivating mutation(s) in the gene for tissue non-specific alkaline phosphatase (TNSALP). HPP in children features premature loss of deciduous teeth often with impaired skeletal mineralization, poor growth, static myopathy, and compromised physical function. To date there are no approved treatments for HPP. Perinatal and infantile forms have very high morbidity and mortality and the j...

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from deficiency of one of the enzymes required for synthesis of cortisol in the adrenal cortex. The most common form of the disease is classic 21-hydroxylase deficiency, which is characterized by decreased synthesis of glucocorticoids and often mineralocorticoids, adrenal hyperandrogenism and impaired development and function of the adrenal medulla. The clinical management of classic 21-...