Congenital hypothyroidism

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's weight loss doctor NYC
Philadelphia GLP-1 weight loss and GLP-1 clinic NYC

Congenital hypothyroidism
Jaundice in a newborn, a possible sign of congenital hypothyroidism
Synonyms	Cretinism
Pronounce	N/A
Specialty	N/A
Symptoms	Jaundice, poor feeding, constipation, hypotonia, macroglossia, umbilical hernia, prolonged neonatal jaundice
Complications	Intellectual disability, growth failure
Onset	Neonatal
Duration	Lifelong
Types	N/A
Causes	Thyroid dysgenesis, dyshormonogenesis, iodine deficiency
Risks	Family history, maternal iodine deficiency
Diagnosis	Newborn screening, thyroid function tests
Differential diagnosis	Hypopituitarism, Down syndrome, hypothyroxinemia
Prevention	Iodine supplementation during pregnancy
Treatment	Levothyroxine
Medication	N/A
Prognosis	Good with early treatment
Frequency	1 in 2,000 to 4,000 newborns
Deaths	N/A

Congenital hypothyroidism is a condition that affects newborns, characterized by an inadequate production of thyroid hormones immediately after birth. This condition can lead to physical and mental growth retardation if not detected and treated promptly.

Etiology

The most common cause of congenital hypothyroidism is thyroid dysgenesis, where the thyroid gland is either absent, ectopic, or severely underdeveloped. Other causes include dyshormonogenesis, a genetic defect leading to impaired thyroid hormone production, and iodine deficiency.

Clinical Presentation

Infants with congenital hypothyroidism often appear normal at birth. Symptoms may not be evident until a few weeks after birth and can include jaundice, constipation, poor muscle tone, sluggishness, and a protruding tongue.

Diagnosis

Diagnosis of congenital hypothyroidism is usually made through newborn screening programs. This involves a heel prick blood test taken within the first few days of life. The test measures the levels of thyroid-stimulating hormone (TSH) and thyroxine (T4) in the infant's blood.

Treatment

The primary treatment for congenital hypothyroidism is replacement therapy with levothyroxine. This medication is given orally and the dose is adjusted based on regular blood tests to monitor TSH and T4 levels.

Prognosis

With early diagnosis and appropriate treatment, children with congenital hypothyroidism can lead normal lives. However, if left untreated, the condition can lead to severe intellectual disability and growth failure.

Gallery

• Congenital hypothyroidism
  Congenital hypothyroidism
• Congenital hypothyroidism
  Congenital hypothyroidism
• Congenital hypothyroidism
  Congenital hypothyroidism

See Also

• Thyroid
• Thyroid hormones
• Thyroid-stimulating hormone
• Levothyroxine