In simple words: Congenital hypothyroidism with diffuse goiter is a condition present at birth in which an underactive thyroid gland doesn't produce enough thyroid hormone.This leads to a general swelling of the thyroid gland in the neck.A person with this condition might experience weakness, a hoarse voice, trouble breathing and swallowing, cough, headaches, memory problems, dry skin, constipation, and sensitivity to cold.

A condition present from birth where the thyroid gland does not produce enough thyroid hormone, resulting in diffuse enlargement of the thyroid gland.

Example 1: A newborn infant exhibits signs of hypothyroidism such as lethargy, poor feeding, and prolonged jaundice. Blood tests reveal low T4 and high TSH levels, and an ultrasound shows a diffusely enlarged thyroid gland, confirming the diagnosis of congenital hypothyroidism with diffuse goiter., A 2-month-old baby presents with constipation, hypotonia, and a hoarse cry.Physical examination reveals an enlarged thyroid gland without nodules.Laboratory tests confirm low thyroid hormone levels and elevated TSH. This supports the diagnosis of congenital hypothyroidism with diffuse goiter. , An infant born with congenital hypothyroidism with diffuse goiter is started on levothyroxine shortly after birth. Regular monitoring of thyroid hormone levels and adjustments to medication dosage are necessary to ensure normal growth and development.

Documentation should include details of the patient's symptoms, physical examination findings (including size and characteristics of the thyroid gland), laboratory results (TSH, T3, T4, thyroglobulin), and imaging studies (e.g., thyroid ultrasound). Any relevant family history of thyroid disorders should also be noted. Details about the treatment plan, including medication dosage and follow-up schedule, should be documented.