User:Mr. Ibrahem/Congenital hypothyroidism

Congenital hypothyroidism (CH) is thyroid hormone deficiency present at birth. Initially the baby may appear normal. Without treatment, over the next few weeks to months, jaundice, poor feeding, constipation, poor or hoarse cry, low body temperature, and poor muscle tone may occur. If treatment still dose not occur puffy eyes, large tongue, swollen abdomen, breathing problems, and intellectual disability may occur.

Causes include lack of a thyroid gland, iodine deficiency, and genetic mutations involving the thyroglobulin gene, thyroid peroxidase gene, or thyroid-stimulating hormone (TSH) receptor. Risk factors include prematurity. Onset of symptoms is related to no further exposure to the mother's thyroid hormone after birth. The condition is screened for at birth in most countries, by measuring either TSH or T4 around the third days of life.

Treatment is with levothyroxine, as soon as the diagnosis is established. The pills can be crushed and mixed with a small amount of breast milk. Thyroid testing is than carried out every two weeks until the TSH is normal and than every 1 to 3 months until the child is one. Most children with proper treatment develop normally.

Congenital hypothyroidism occurs in about 1 in 2,000 newborns. Females are more commonly affected than males. Before newborn screening programs, it was one of the most common preventable causes of intellectual disability. The connection between goiter and congenital iodine deficiency syndrome was determined by Paracelsus in the 1500s. Effective treatment was found in 1891 by Murray in the form of thyroid extract.