clinical feature of cretinism
Cretinism is a term historically used to describe a condition resulting from severe, untreated congenital hypothyroidism in which there is a deficiency of thyroid hormone beginning in infancy or early childhood. It is important to note that the term "cretinism" is now considered outdated and potentially offensive. The preferred term is congenital hypothyroidism. Clinical features of congenital hypothyroidism, if left untreated, can include:
1. Growth:
- Short stature
- Delayed bone age
- Proportionately short limbs
2. Developmental:
- Mental retardation (intellectual disability)
- Delayed motor skills development
- Poor muscle tone
3. Metabolic:
- Hypothermia (low body temperature)
- Low metabolic rate
- Constipation
4. Appearance:
- Puffy facial features
- Large protruding tongue (macroglossia)
- Dry, coarse skin
- Jaundice (yellowing of the skin and eyes)
- Umbilical hernia
5. Other features:
- Anemia
- Hoarse crying voice
- Feeding problems
- Hearing loss
It's important to recognize that since newborn screening for hypothyroidism has become standard in many countries, early detection and treatment with thyroid hormone replacement can prevent the development of the severe effects of congenital hypothyroidism. Infants who are diagnosed early can have normal growth and intellectual development if they maintain normal thyroid hormone levels with appropriate treatment.