Summary about Disease
Cretinism, also known as congenital hypothyroidism, is a condition caused by thyroid hormone deficiency at birth. This deficiency can severely impact growth and brain development if left untreated. It leads to physical and mental retardation. The term "cretinism" is outdated and considered offensive; congenital hypothyroidism is the preferred term.
Symptoms
Symptoms can vary in severity but often include:
Stunted growth
Mental retardation
Thickened facial features
Large tongue
Hoarse cry
Umbilical hernia
Constipation
Poor muscle tone
Jaundice
Sleepiness
Feeding difficulties
Causes
The most common causes include:
Thyroid dysgenesis (abnormal thyroid gland development)
Thyroid hormone synthesis defects (inability to produce thyroid hormone)
Iodine deficiency in the mother during pregnancy (less common in developed countries)
Pituitary gland abnormalities (rare)
Maternal thyroid medications (rare)
Medicine Used
The primary treatment is thyroid hormone replacement therapy, usually with levothyroxine (synthetic T4). The dosage is adjusted based on blood tests to maintain optimal thyroid hormone levels.
Is Communicable
No, cretinism (congenital hypothyroidism) is not communicable or contagious. It is a developmental disorder, not an infectious disease.
Precautions
While congenital hypothyroidism itself is not preventable in many cases (such as genetic defects), iodine supplementation during pregnancy can prevent cases caused by iodine deficiency. Early screening and treatment are crucial to minimize long-term effects.
How long does an outbreak last?
Cretinism (congenital hypothyroidism) does not occur in outbreaks like infectious diseases. It's a congenital condition present from birth.
How is it diagnosed?
Diagnosis typically involves:
Newborn screening: A blood test taken shortly after birth to measure T4 (thyroxine) and TSH (thyroid-stimulating hormone) levels.
Physical examination: Assessing the infant for characteristic signs and symptoms.
Further blood tests: To confirm the diagnosis and determine the cause.
Thyroid scan or ultrasound: To assess the size and structure of the thyroid gland.
Timeline of Symptoms
Symptoms may not be immediately apparent at birth. Some symptoms like jaundice and feeding difficulties may be seen within the first few days. Other symptoms, like stunted growth and developmental delays, become more evident over weeks or months if the condition remains untreated.
Important Considerations
Early diagnosis and treatment are critical to prevent irreversible brain damage and developmental delays. Lifelong monitoring and adjustment of thyroid hormone replacement therapy are necessary. Parents need education and support to manage the child's condition and ensure optimal development. Neurodevelopmental assessments are also important.