Question
An 8-month-old male infant has been experiencing continuous weight loss since birth, now weighing only over 8 jin, and has developed severe dehydration, with sunken eye sockets and yellowish hair. After multiple medical visits, the cause has not been diagnosed.
Answer
Based on the description, the baby’s symptoms include weight loss, dehydration, hyponatremia, hyperkalemia, and elevated cortisol levels, which are consistent with the 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH). This condition is a chromosomal recessive genetic disease that primarily affects the endocrine system. It is recommended for parents to bring the baby to a pediatric endocrinology department for further diagnosis. Once diagnosed,