Objective: Acute adrenal crisis is one of the main concerns in children with classic congenital adrenal hyperplasia (CAH). The aim of this study was to evaluate hypoglycemic and salt-wasting episodes in children with an established diagnosis of classic 21-hydroxylase deficiency (21-OHD) after start of treatment.
Methods: A retrospective observational study was conducted for 85 patients with classic CAH (68 salt-wasting and 17 simple virilizing), aged 1 to 16 years. Clinical records, biochemical profile and therapeutic management of adrenal crisis were reviewed. Episodes were classified according to clinical presentation and outcome.
Results: 33% of recruited patients reported at least one episode of hypoglycemia and/or salt loss. Of the 43 total episodes, we found 22 cases of hypoglycemia (51%), 9 of salt wasting (21%) and 12 combined (28%). 79% of episodes were mild/moderate. Six patients experienced seizures and three patients died as a result of adrenal crisis. The most frequently observed underlying causes were infections, prolonged fasting and treatment errors. Only in 77% of cases the families of patients have taken the correct therapeutic measures. The overall frequency of episodes/year for 100 patients was equal to 6.3%.
Conclusions: The prevention and proper therapeutic management of the crisis is of crucial relevance. It is feasible only through active and continuous training of the patients families by medical team. Further research on the interactions that exist between the cortisol deficiency, adrenaline and glucose metabolic dysregulation would be useful to identify the strategy for the prevention of the acute adrenal crisis. New experimental drugs could reduce frequency of mild/moderate episodes related to the non-physiological cortisol circadian rhythm replicated by conventional therapies.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology