Congenital Hypothyroidism and an Enlarged Thyroid?
My child has Congenital Hypothyroidism (CH). She showed no symptoms of CH at birth, and had gained weight and height at her one week check up, prior to synthroid usage.
User Comments
- Around the world, the most common cause of congenital hypothyroidism is iodine deficiency, but in most of the developed world and areas of adequate environmental iodine, cases are due to a combination of known and unknown causes.
Congenital hypothyroidism is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism).
Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, abnormally located, or severely reduced in size (hypoplastic). In the remaining cases, a normal-sized or enlarged thyroid gland is present, but production of thyroid hormones is decreased or absent. If untreated, congenital hypothyroidism can lead to mental retardation and abnormal growth. In the United States and many other countries, all newborns are tested for congenital hypothyroidism. If treatment begins in the first month after birth, infants usually develop normally.
Most cases of congenital hypothyroidism are sporadic, which means they occur in people with no history of the disorder in their family. An estimated 15 to 20 percent of cases are inherited. Many inherited cases are autosomal recessive, which means two copies of the gene in each cell are altered. Most often, the parents of a child with congenital hypothyroidism are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder. Some inherited cases (those with a mutation in the PAX8 gene or certain TSHR mutations) have an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Further Outpatient Care:
Children with congenital hypothyroidism should be monitored clinically and biochemically. Clinical parameters should include linear growth, weight gain, developmental progression, and overall well-being.
Laboratory measurements of T4 (total or free T4) and TSH should be repeated 4-6 weeks after initiation of therapy, then every 1-3 months during the first year of life and every 2-4 months during the second and third years. In children aged 3 years and older, the time interval between measurements may be increased, depending on the reliability of the patient's caretakers. As dosage changes are made, testing should be more frequent.
Formal developmental and psychoneurological evaluations should be considered in all infants with congenital hypothyroidism. Such evaluations are especially important in children whose treatment was delayed or inadequate. As mentioned previously, infants diagnosed early but with detectable signs of hypothyroidism at the time of diagnosis are also at increased risk of developmental problems. As with any child, school progression should be monitored and parents encouraged to seek early evaluations and interventions as soon as problems are recognized.
Thyroid hormone replacement and medical monitoring are required for life.
Below are some websites with more info.
- Could this be a transient condition?
- I understand that an enlarged thyroid may be caused by a genetically recessive trait, or maternal thyroid antibodies during gestation. Are there any other reasons for an enlarged thyroid?
- Her first blood test was done within 24 hours of her birth, and showed elevated TSH. She underwent tests: her bone age was "at least" 36 weeks, and she was born at 38 weeks. An ultrasound revealed an enlarged thyroid.
- http://ghr.nlm.nih.gov/condition=congeni...
http://en.wikipedia.org/wiki/congenital_...
http://www.emedicine.com/ped/topic501.ht...