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Congenital hypothyroidism

Congenital hypothyroidism (CHT) is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent mental retardation. Treatment consists of a daily dose of thyroid hormone (thyroxine) by mouth. Because the treatment is simple, effective, and inexpensive, nearly all of the developed world practices newborn screening to detect and treat congenital hypothyroidism in the first weeks of life. more...

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Causes

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 mixture of known and unknown causes. Most commonly there is a defect of development of the thyroid gland itself, resulting in an absent (athyreosis) or underdeveloped (hypoplastic) gland. A hypoplastic gland may develop higher in the neck or even in the back of the tongue. A gland in the wrong place is referred to as ectopic, and an ectopic gland at the base or back of the tongue is a lingual thyroid. Some of these cases of developmentally abnormal glands result from genetic defects, and some are "sporadic," with no identifiable cause.

Congenital hypothyroidism can also occur due to genetic defects of thyroxine or triiodothyronine synthesis within a structurally normal gland. Among specific defects are thyrotropin (TSH) resistance, iodine trapping defect, organification defect, thyroglobulin, and iodotyrosine deiodinase deficiency. In a small proportion of cases of congenital hypothyroidism, the defect is due to a deficiency of thyroid stimulating hormone, either isolated or as part of congenital hypopituitarism.

In some instances, hypothyroidism detected by screening may be transient. The most common cause of this is the presence of maternal antibodies which temporarily impair thyroid function for several weeks.

Cretinism is an old term for the state of mental and physical retardation resulting from untreated congenital hypothyroidism, usually due to iodine deficiency from birth because of low iodine levels in the soil and local food sources. The term, like so many other 19th century medical terms, acquired pejorative connotations as it became used in lay speech. It is now rarely used by physicians.

Diagnostic evaluation

In the developed world, nearly all cases of congenital hypothyroidism are detected by the newborn screening program. These are based on measurement of TSH or thyroxine (T4) on the second or third day of life. If the TSH is high, or the T4 low, the infant's doctor and parents are called and a referral to a pediatric endocrinologist is recommended to confirm the diagnosis and initiate treatment. Often a technetium thyroid scan is performed to detect a structurally abnormal gland.

Treatment

The goal of newborn screening programs is to detect and start treatment within the first 1-2 weeks of life. Treatment consists of a daily dose of thyroxine, available as a small tablet. The generic name is levothyroxine, and several brands are available. Commonly used brands in North America are Synthroid, Levoxyl, Unithroid, and Levothroid. The tablet is crushed and given to the infant with a small amount of water or milk. The most commonly recommended dose range is 10-15 μg/kg daily, typically 37.5 or 44 μg.

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Hypothyroidism in children
From Nurse Practitioner, 5/1/03 by Risser, Nancy

Beltroy E, O'Connor K: Visual diagnosis: two infants who have coarse facial features and growth and developmental delay. Pediatr Rev 2003; 24(1):16-21.

Newborn screening for hypothyroidism has greatly reduced the incidence of primary congenital hypothyroidism, but screening tests are never 100% reliable. This article presents two children with congenital hypothyroidism that presented with physical findings at 19 months (born outside the United States) and 12 months (born in the United States with reported negative neonatal thyroid tests at 2 and 15 days).

Congenital hypothyroidism is diagnosed when there are elevated serum TSH and low serum T4 levels. Physical signs include a broad, flat nose, pseudohypertelorism, puffy, myxedematous facies, large protruding tongue, large fontanelles, sparse hair, dry skin, hypotonia, protuberant abdomen, umbilical hernia, hoarse cry, and growth and development retardation. History includes feeding problems, constipation, and delayed tooth eruption. Impairment of brain maturation due to hypothyroidism depends on age and duration of onset.

Adequate early treatment generally insures normal linear growth and brain development; however some studies suggest difficulties in visuospatial tasks, attention, and memory in children by the 6th grade. This is not a condition that should be ruled out because of a neonatal screening.

Copyright Springhouse Corporation May 2003
Provided by ProQuest Information and Learning Company. All rights Reserved

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