Congenital hypothyroidism

Overview

Type of disease: Rare conditions

Congenital hypothyroidism (CH) is a condition that affects the body’s thyroid gland, a small organ in the lower neck. People with CH are unable to produce enough thyroid hormone, a chemical that is essential for healthy growth and development. Hormones send messages to cells throughout the body. Thyroid hormone helps control growth, brain development, and the breaking down of food for energy. CH occurs when the thyroid gland is not working properly. About 80 to 85 percent of CH cases are sporadic, meaning that CH was not passed on from parent to child. An affected individual cannot pass CH on to his or her children, and siblings are usually not at risk of having CH. About 15 percent of CH cases are considered to have a genetic cause.

Most babies with CH show signs at three to four weeks after birth. Early signs of CH include yellow skin or eyes (jaundice), sleeping longer or more often, constipation, weak muscle tone (hypotonia), swelling around the eyes, swollen tongue, cool pale skin, large belly with a navel that sticks out, a hoarse-sounding cry, and delayed growth and weight gain. If left untreated, CH can cause intellectual delays and learning delays. Many babies are screened for CH at birth so that treatment can begin early. However, the conditions included in newborn screening differ from state to state. For more information, visit Baby’s First Test. Talk with your doctor and genetic counselor to determine which treatment option is best for you. Support groups are also a good source of information.

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