Congenital hypothyroidism

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Congenital hypothyroidism (pronounced: kuhn-JEN-uh-tuhl hahy-poh-THAHY-roi-diz-uhm) is a condition that affects newborns and is characterized by a partial or complete loss of function of the thyroid gland (a gland in the neck that produces hormones).

Etymology

The term "congenital hypothyroidism" is derived from the Latin word "congenitus" meaning "born with," and the Greek words "hypo" meaning "under," "thyreos" meaning "shield," and "eidos" meaning "form." Thus, it refers to a condition present at birth, characterized by under-functioning of the shield-shaped thyroid gland.

Symptoms

Symptoms of congenital hypothyroidism may include jaundice, constipation, poor muscle tone, sluggishness, a hoarse cry, and feeding difficulties. If left untreated, it can lead to intellectual disability and growth failure.

Causes

Congenital hypothyroidism can be caused by a variety of factors, including a missing or improperly formed thyroid gland, an enzyme defect, or a lack of iodine in the mother's diet during pregnancy.

Diagnosis

Diagnosis of congenital hypothyroidism is typically made through newborn screening tests, which measure the levels of thyroid-stimulating hormone (TSH) and thyroxine in a baby's blood.

Treatment

Treatment for congenital hypothyroidism involves daily use of a synthetic thyroid hormone called levothyroxine.

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