Cretinism
Short Note
Definition
Congenital hypothyroidism
Infants with congenital hypothyroidism are usually born at term or after term.
Aetiology and Risk Factors
Congenital hypothyroidism can be endemic, genetic, or sporadic.
Maternal Hypothyroidism
Symptoms and signs
Decreased activity
Poor feeding and weight gain
Small stature or poor growth
Jaundice
Decreased stooling or constipation
Hypotonia
Hoarse cry
"Good Babies" because they rarely cry and they sleep most of the time.
The physical findings of hypothyroidism may or may not be present at birth.
Coarse facial features
Macroglossia
Large fontanelles
Umbilical hernia
Mottled, cool, and dry skin
Developmental delay
Pallor
Myxedema
Goiter
Anemia
Other birth defects, mainly atrial and ventricular septal defects.
In adults, Cretinism results in mental deterioration, swelling of the skin, loss of water and hair.[1] Bone maturation and puberty are severely delayed reduced muscle tone and coordination, Ovulation is impeded, and infertility is common
Diagnosis
T3
T4
TSH
The combination of low or low-normal serum total T4 levels and a serum TSH within the reference range suggests thyroid-binding globulin (TBG) deficiency. This congenital disorder causes no pathologic consequence, but should be recognized to avoid unnecessary thyroid hormone administration.
Management
Early diagnosis and thyroid hormone replacement. Early : before age 10-13 days and normalization of thyroid hormone blood levels by age 3 weeks.
Levothyroxine in pill form
Proper administration :
Pills can be crushed in a spoon; dissolved with a small amount of breast milk, water, or other liquid immediately before administration; and administered to the child with a syringe or dropper
Toddlers typically chew the tablets
Initial dosages of 10-15 mcg/kg/day
