What can result from a severe salt-wasting type of congenital adrenal hyperplasia?

Severe salt-wasting type congenital adrenal hyperplasia, particularly due to 21-hydroxylase deficiency, leads to a deficiency in cortisol and aldosterone production. This insufficiency can cause significant imbalances in electrolytes, particularly sodium and potassium, leading to major metabolic issues.

The body's inability to retain sodium results in hyponatremia (low sodium levels), and can trigger compensatory mechanisms that may result in elevated levels of potassium (hyperkalemia). Additionally, the lack of aldosterone contributes to the risk of dehydration and consequentially impacts blood volume and blood pressure regulation. Therefore, the metabolic disturbances are a hallmark of this condition, including acidosis due to electrolyte imbalances.

Understanding these consequences is crucial in managing infants with congenital adrenal hyperplasia, emphasizing the importance of monitoring and addressing metabolic and electrolyte disturbances to prevent severe complications.