Symptoms of Congenital Hypothyroidism

Mar 25, 2025 Source: Cainiu Health
Disease description:

I suspect that my boss's child may have congenital hypothyroidism, and I would like to learn more about the symptoms of congenital hypothyroidism.

Doctor's answer (1)
Dr. Yang Chuanjia

Congenital hypothyroidism is an endocrine disorder caused by abnormal thyroid gland development, functional deficiencies, or impaired thyroid hormone synthesis during the fetal or neonatal period. Its symptoms can mainly be categorized into the following groups:

1. Characteristic facial features and body appearance: Affected infants may exhibit symptoms such as a large head, short neck, coarse skin, pale yellowish complexion, sparse and lusterless hair, facial myxedema, and eyelid swelling. Additional features may include a flattened nasal bridge, wide-set eyes, thick lips, and a large, broad tongue that often protrudes from the mouth. The child may also be short in stature, with a long trunk and short limbs, along with a protruding abdomen; some infants may develop umbilical hernias.

2. Low physiological function: Infants may appear listless, quiet, less active, and show reduced responses to surrounding stimuli. Other symptoms may include excessive sleepiness, poor appetite, hoarse voice, low body temperature with cold intolerance, slow pulse and respiration, muffled heart sounds, decreased muscle tone, and slow intestinal motility, leading to symptoms such as bloating and constipation.

3. Neurological symptoms: Impaired intellectual development, a dull and apathetic expression, and delayed nerve reflexes may occur. Motor development may also be affected, with delays in milestones such as rolling over, sitting, standing, and walking.

The above symptoms may vary among individuals, and not all affected infants will exhibit all of these symptoms simultaneously. If you have any concerns, please seek medical attention promptly.