Congenital hypothyroidism describes a newborn with decreased (or, very rarely, absent) thyroid hormone production. It is also known as Cretinism
Congenital hypothyroidism occurs in about 1 in 4,000 babies, with wide disparity in racial and ethnic groups. It may be mild or severe, occurring in families or arising sporadically.
About 9 of ten cases are caused by failure of the thyroid gland to form properly (thyroid dysgenesis) or even to be present at all (aplasia).
Since mother's thyroid hormone crosses the placenta from her bloodstream to that of the fetus, affected infants often appear normal at birth.
Symptoms of Congenital Hypothyroidism
- floppy infant
- thick, protruding tongue
- poor feeding
- choking episodes
- prolonged jaundice
- short stature
Treatment of Congenital Hypothyroidism
Congenital hypothyroidism is easily treated with daily supplements of thyroid hormone. To prevent problems, treatment must begin shortly after birth.
Tests of Congenital hypothyroidism include
- X-ray of the long bones
- free (unbound) T4 (thyroxine) levels
- serum TSH level
- serum TBG level (if total thyroxine values are measured)
- thyroid scan (technetium)