Patient's question:
My son was born on March 27th, via normal delivery, weighing 6 pounds. After the full moon check-up, it was found that he had severe dehydration, and he received treatment in multiple hospitals. Now he is over 8 months old, weighing over 8 pounds, with sunken eyes and yellow hair. Currently, the cause of the disease has still not been diagnosed.Doctor's answer:
A 8-month-old infant with weight loss, dehydration, hyponatremia, hyperkalemia, and elevated cortisol levels. This is indicative of congenital adrenal hyperplasia (CAH). CAH is classified into several types, and this is believed to be 21-hydroxylase deficiency, specifically the salt-wasting form, caused by complete deficiency of 21-hydroxylase. Most girls exhibit ambiguous genitalia at birth. It is an autosomal recessive genetic disorder and an endocrine disease. It is recommended to consult a pediatric endocrinology department. After diagnosis, cortisol supplementation is needed to meet physiological requirements.