General Information for Families
Hypothyroidism in the newborn may result from absence or abnormal development of
the thyroid gland, destruction of the thyroid gland, failure of stimulation of the
thyroid by the pituitary gland, or defective or abnormal formation of thyroid hormones.
Incomplete development of the thyroid is the most common defect and occurs at a
rate of 1 out of every 3,000 births. Girls are affected twice as often than boys.
Most affected infants have few or no symptoms, because they only have a mild deficiency
of thyroid hormone. However, infants that are profoundly hypothyroid often have
a distinctive appearance. The affected infant may have puffy-appearing face, a dull
look, and a large tongue that protrudes from the mouth, which is usually kept open.
This appearance usually develops as the disease progresses. The child may have dry,
brittle hair, low hairline, and jaundice (yellow eyes and skin). Feeding is poor
and the infant may choke frequently. Constipation is common. Affected children do
not cry much, sleep a lot, are sluggish and inactive. Muscle tone is usually decreased.
If untreated, even mild hypothyroidism can lead to severe mental retardation and
growth retardation. Development is delayed early on, often indicated by failure
to meet normal milestones.
The appearance of teeth may be delayed. These problems become more severe as the
child ages. Growth failure in terms of body length is noted very early.
Signs & Symptoms
Symptoms
- Floppy infant
- Thick, protruding tongue
- Poor feeding
- Choking episodes
- Constipation
- Prolonged jaundice
- Short stature
Signs and tests
- Widely separated skull bones
- Abnormally large fontanelles (soft spots of the skull)
- Dull-appearing facial features
- Dry, brittle hair and low hairline
- Short, thick neck
- Growth failure
- Short arms and legs
- Broad hands with short fingers
- Myxedema
- Hypotonia
- Hoarse-sounding cry or voice
Tests 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)
Treatment
Early diagnosis is very important. Most of the effects of hypothyroidism are easily
reversible. However, critical development of the nervous system takes place in the first few months after birth. Thyroid hormone deficiency may result in irreversible
damage to the nervous system with marked mental retardation.
Replacement therapy
with thyroxine is the standard treatment of hypothyroidism. Once medication starts,
the blood levels of TSH and free T4 are monitored to keep the values within a normal
range.
Source: Medicine Plus
What is Congenital Hypothyroidism (hi-poe-thigh-roid-iz-um)?
Congenital hypothyroidism, called CH for short, is affects the body’s ability to
make thyroid hormone. In children with CH, the thyroid gland (a small gland found in the front of the neck under the voice box) does not make enough thyroid hormone.
Thyroid hormone acts like a chemical messenger to help control the body’s metabolism
(how the body makes and uses energy) and calcium balance.
What causes Congenital Hypothyroidism?
CH usually happens when the thyroid gland does not develop properly. CH is not usually
inherited (passed through families).
How is Congenital Hypothyroidism detected?
Newborn screening is done on tiny samples of blood taken from the infant’s heel 24-48 hours after birth. After a positive newborn screen, testing at special labs must be done to know for sure if a baby has CH.
What problems can Congenital Hypothyroidism cause?
Untreated CH causes feeding problems, sleepiness, constipation, jaundice (skin looks
yellow), mental retardation, and developmental delay. There is a chance that children
with CH will have hearing problems. It is very important to follow the doctor’s instructions about caring for a child with CH.
What is the treatment for Congenital Hypothyroidism?
CH can be treated. People with CH need daily medication. The medication replaces
the missing thyroid hormone. The treatment is life-long. For children who have CH:
- The child should have a primary care doctor and a pediatric endocrinologist.
- Treatment for CH is life-long, and a child with CH should see a doctor regularly.
Source: Minnesota Newborn Screening Program
National and State Specific Family Resources
View National and State Specific Family Resources
Congenital Hypothyroidism Prevalence by State
The Region 4 Newborn Screening Data, summarized annually, provides detailed data on newborn screening results within Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio and Wisconsin. It is provided here to: assist families and physicians in knowing the relative number of confirmed annual cases for the disorder within each state and how it compares to other states in the region. assist families and specialists across states in connecting with specialists who may have experience treating a specific rare disorder. It is important to note that ongoing developments in the sophistication of technology allows states to progressively increase the number of disorders they screen in their program.
| 2005 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 175659 | 85570 | 144509 | 124942 | 70934 | 71058 | 52222 | 724894 |
| Total Specimens: | 182799 | 107983 | 151193 | 133680 | 74887 | 73857 | 0 | 724399 |
| 2005 | 95 | 43 | 56 | 72 | 43 | 31 | 17 | 357 |
| 2004 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 177603 | 87942 | 142023 | 134103 | 66625 | 70579 | 50930 | 729805 |
| Total Specimens: | 183727 | 107852 | 151296 | 127572 | 68895 | 71791 | 53583 | 764716 |
| 2004 | 84 | 31 | 0 | 66 | 57 | 19 | 24 | 281 |
| 2003 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 182590 | 86382 | 151983 | 130937 | 70053 | 70157 | 55281 | 747383 |
| Total Specimens: | 185033 | 109133 | 152211 | 128970 | 73362 | 71095 | 53381 | 773185 |
| 2003 | 101 | 30 | 0 | 86 | 39 | 0 | 19 | 275 |
| 2002 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 180622 | 84618 | 148720 | 129967 | 68560 | 68025 | 54233 | 734745 |
| Total Specimens: | 184033 | 109360 | 152561 | 127978 | 71634 | 67839 | 52775 | 766180 |
| 2002 | 83 | 34 | 0 | 107 | 30 | 0 | 26 | 280 |
