Background: Congenital adrenal hyperplasia (CAH) can present with salt loss, hyperkalemia and arrhythmias in the neonatal period. If CAH is not diagnosed and treated early, neonates are susceptible to sudden death in the first few weeks of life. This problem is particularly critical in boys who have no genital ambiguity to alert physicians before the onset of dehydration and shock.
Objective and hypotheses: We recommend that a diagnosis of CAH be considered in neonates presenting with hyponatremia, hyperkalemia and shock.
Method: A 10 day old presented to the emergency department with a history of poor feeding. He was afebrile and had lost 5% of his body weight. His heart rate was 65/min with normal saturations and a systolic murmur. ECG showed broad complex bradycardia. Blood gas analysis showed a ph of 7.3, sodium of 112 mEq/l and potassium of 9.7 mEq/l. On obtaining the electrolyte results, a presumptive diagnosis of CAH was made. Examination showed that he had normal male genitalia with scrotal hyperpigmention. Saline bolus, nebulised salbutamol, calcium gluconate and IV hydrocortisone were commenced. A brief focussed history from parents revealed first degree consanguinity. Following administration of calcium gluconate his heart rate increased to 150/min with regular sinus rhythm He was later confirmed to have 21-hydroxylase deficiency with a 17-OHP of 280 nmol/l. His heart murmur was confirmed to be innocent.
Results and conclusion: In the index case, CAH presented with a life-threatening arrhythmia the presence of a cardiac murmur was a confounding factor. Timing and appropriate medical management in the emergency unit can prevent fatality. Finally a combination of hyperkalemia and hyponatremia with metabolic acidosis is suggestive of adrenal insufficiency and treatment with hydrocortisone gives excellent response.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology