Question
A newborn weighs 3.4 kg and is 50 cm tall. The newborn screening suggests a possible thyroid function disorder with a TSH level of 10.5. The child’s appetite, bowel movements, and sleep are normal. There are no symptoms of skin pallor, thickening, or excessive creases and scales. The lips are thick and large, often sticking out, with the mouth frequently open and dribbling saliva. The complexion is pale or waxy yellow, with a sunken bridge of the nose. How can congenital hypothyroidism be diagnosed, prevented, and treated?
Answer
Congenital hypothyroidism, also known as cretinism, is a thyroid function disorder where the dysfunction begins in the fetal or neonatal period. Affected children often show symptoms such as low body temperature, reduced crying and smiling, decreased activity, delayed responses, and lack of appetite. They may also experience delayed physical and intellectual development. If not diagnosed and treated promptly, it may lead to stunted growth and low intelligence in children. Early detection and treatment with thyroid hormone can be helpful.