Congenital Hypothyroidism Clinical Presentation
- Author: Maala S Daniel, MBBS; Chief Editor: Stephen Kemp, MD, PhD more...
In regions of iodide deficiency and a known prevalence of endemic cretinism, the diagnosis may be straightforward.
Infants with congenital hypothyroidism are usually born at term or after term.
Symptoms and signs include the following:
- Decreased activity
- Large anterior fontanelle
- Poor feeding and weight gain
- Small stature or poor growth
- Decreased stooling or constipation
- Hoarse cry
Often, they are described as "good babies" because they rarely cry and sleep most of the time.
Family history should be carefully reviewed for information about similarly affected infants or family members with unexplained mental retardation.
Maternal history of a thyroid disorder and mode of treatment, whether before or during pregnancy, can occasionally provide the etiology of the infant's problem.
Congenital hypothyroidism is more common in infants with birthweights less than 2,000 g or more than 4,500 g.[36, 24]
Congenital hypothyroidism is more common in multiple births, with a low concordance rate.
The physical findings of hypothyroidism may or may not be present at birth (see the image below).
Signs include the following:
- Coarse facial features
- Macroglossia (See the image below.)
- Large fontanelles
- Umbilical hernia
- Mottled, cool, and dry skin
- Developmental delay
Newborn screening involves the following:
- Infants with congenital hypothyroidism are usually identified within the first 2-3 weeks of life.
- These infants should be carefully examined for signs of hypothyroidism, and the diagnosis should be confirmed by repeat testing.
- Infants with obvious findings of hypothyroidism (eg, macroglossia, enlarged fontanelle, hypotonia) at the time of diagnosis have intelligence quotients (IQs) 10-20 points lower than infants without such findings.
Anemia may occur, due to decreased oxygen carrying requirement.
Dysgenesis of the thyroid gland, including agenesis (ie, complete absence of thyroid gland) and ectopy (lingual or sublingual thyroid gland) may be a cause.
Inborn errors of thyroid hormone metabolism include dyshormonogenesis. Most cases are familial and inherited as autosomal recessive conditions. These may also include the following:
- Thyroid-stimulating hormone (TSH) unresponsiveness (ie, TSH receptor abnormalities)
- Impaired ability to uptake iodide
- Peroxidase, or organification, defect (ie, inability to convert iodide to iodine)
- Pendred syndrome, a familial organification defect associated with congenital deafness
- Thyroglobulin defect (ie, inability to form or degrade thyroglobulin)
- Deiodinase defect
Thyroid hormone resistance (ie, thyroid hormone receptor abnormalities) may also be a cause.
In maternal autoimmune disease, transplacental passage of antibodies cause transient or permanent hypothyroidism.[2, 39]
Radioactive iodine therapy of pregnant women may cause permanent congenital hypothyroidism. Iodine in contrast agents or skin disinfectants can cause hypothyroidism or hyperthyrotropinemia in premature neonates.
TSH or thyrotropin-releasing hormone (TRH) deficiencies are also noted. Hypothyroidism can also occur in TSH or TRH deficiencies, either as an isolated problem or in conjunction with other pituitary deficiencies (eg, hypopituitarism). If present with these deficiencies, hypothyroidism is usually milder and is not associated with the significant neurologic morbidity observed in primary hypothyroidism.
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