Congenital hypothyroidism (CH) 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.

Contents
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1 Etiology o 1.1 Genetic 2 Diagnostic evaluation 3 Treatment 4 Symptoms 5 Prognosis 6 References 7 See also

[edit] Etiology
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. 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. One Japanese study found a statistical correlation between certain organochlorine insecticides and dioxin-like chemicals in the milk of mothers who had given birth to infants with congenital hypothyroidism.[1] 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.[citation needed] 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.

[edit] Genetic

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. Genetic types of nongoitrous congenital hypothyroidism include: OMIM Name Gene 275200 congenital hypothyroidism, nongoitrous 1 CHNG1 TSHR 218700 CHNG2 PAX8 609893 CHNG3 ? at 15q25.3-q26.1 275100 CHNG4 TSHB 225250 CHNG5 NKX2-5 Nongoitrous congenital hypothyroidism has been described as the "most prevalent inborn endocrine disorder".[2]

[edit] 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 (Tc-99m pertechnetate) thyroid scan is performed to detect a structurally abnormal gland. The Tc-99m pertechnetate exam will help differentiate congenital absence or a defect in organification (a process necessary to make thyroid hormone).

[edit] Treatment
The goal of newborn screening programs is to detect and start treatment within the first 12 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 g/kg daily, typically 37.5 or 44 g.[3] Within a few weeks, the T4 and TSH levels are rechecked to confirm that they are being normalized by treatment. As the child grows up, these levels are checked regularly to maintain the right dose. The dose increases as the child grows.

[edit] Symptoms
Infants born with congenital hypothyroidism may show no effects, or may display mild effects that often go unrecognized as a problem: excessive sleeping, reduced interest in nursing, poor muscle tone, low or hoarse cry, infrequent bowel movements, exaggerated

jaundice, and low body temperature. If fetal deficiency was severe because of complete absence (athyreosis) of the gland, physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia). In the era before newborn screening, less than half of cases of severe hypothyroidism were recognized in the first month of life. As the months proceeded, these infants would grow poorly and be delayed in their development. By several years of age, they would display the recognizable facial and body features of cretinism. Persistence of severe, untreated hypothyroidism resulted in severe mental impairment, with an IQ below 80 in the majority. Most of these children eventually ended up in institutional care.

[edit] Prognosis
Most children born with congenital hypothyroidism and correctly treated with thyroxine grow and develop normally in all respects. Even most of those with athyreosis and undetectable T4 levels at birth develop with normal intelligence, although as a population academic performance tends to be below that of siblings and mild learning problems occur in some.[4] Congenital hypothyroidism is the most common preventable cause of mental retardation. Few treatments in the practice of medicine provide as large a benefit for as small an effort.

[edit] References
1. ^ Nagayama J, Kohno H, Kunisue T, et al. (2007). "Concentrations of organochlorine pollutants in mothers who gave birth to neonates with congenital hypothyroidism". Chemosphere 68 (5): 9726. doi:10.1016/j.chemosphere.2007.01.010. PMID 17307219. http://linkinghub.elsevier.com/retrieve/pii/S0045-6535(07)00040-9. 2. ^ Grasberger H, Vaxillaire M, Pannain S, et al. (December 2005). "Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1". Hum. Genet. 118 (3-4): 34855. doi:10.1007/s00439-005-0036-6. PMID 16189712. 3. ^ LaFranchi SH, Austin J (2007). "How should we be treating children with congenital hypothyroidism?". J. Pediatr. Endocrinol. Metab. 20 (5): 55978. PMID 17642417. 4. ^ Moltz KC, Postellon DC (1994). "Congenital hypothyroidism and mental development". Compr Ther 20 (6): 3426. PMID 8062543.

Introduction
Background
Congenital hypothyroidism is inadequate thyroid hormone production in newborn infants. This can occur because of an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency. The term endemic cretinism is used to describe clusters of infants with goiter and cretinism in defined geographic areas. These areas were discovered to be low in iodine, and the cause of endemic cretinism was determined to be iodine deficiency. In the 1930s, adequate dietary intake of iodine was found to prevent this goiter and cretinism. Thus, the wholesale iodization of salt was established. Despite its efforts, the World Health Organization (WHO) has not been able to completely eliminate iodine deficiency throughout the world. As a result, endemic goiter and cretinism are still observed in some areas, such as regions of Bangladesh, Chad, China, Indonesia, Nepal, Peru, and Zaire. The term sporadic cretinism was initially used to describe the random occurrence of cretinism in nonendemic areas. The cause of these abnormalities was identified as nonfunctioning or absent thyroid glands. This led to replacement of the descriptive term sporadic cretinism with the etiologic term congenital hypothyroidism. Treatment with animal thyroid extract was found to elicit some improvement in these infants, although many remained impaired. The morbidity from congenital hypothyroidism can be reduced to a minimum by early diagnosis and treatment, which was made feasible by the development of radioimmunoassay for thyroid-stimulating hormone (TSH) and thyroxine (T4) from blood spots on filter paper, obtained for neonatal screening tests.

Pathophysiology
The thyroid gland develops from the buccopharyngeal cavity between 4 and 10 weeks' gestation. The thyroid arises from the fourth brachial pouches and ultimately ends up as a bilobed organ in the neck. Errors in the formation or migration of thyroid tissue can result in thyroid aplasia, dysplasia, or ectopy. By 10-11 weeks' gestation, the fetal thyroid is capable of producing thyroid hormone. By 18-20 weeks' gestation, blood levels of T4 have reached term levels. The fetal pituitary-thyroid axis is believed to function independently of the maternal pituitary-thyroid axis. The thyroid gland uses tyrosine and iodine to manufacture T4 and triiodothyronine (T3). Iodide is taken into the thyroid follicular cells by an active transport system and then oxidized to iodine by thyroid peroxidase. Organification occurs when iodine is attached to tyrosine molecules attached to thyroglobulin, forming monoiodotyrosine (MIT) and diiodotyrosine (DIT). The coupling of 2 molecules of DIT forms tetraiodothyronine (ie, T4). The coupling of one molecule of MIT and one molecule of DIT forms T3. Thyroglobulin, with T4 and T3 attached, is stored in the follicular lumen. TSH activates the enzymes needed to cleave T4 and T3 from thyroglobulin. In most situations, T4 is the primary hormone produced by and released from the thyroid gland.

Inborn errors of thyroid metabolism can result in congenital hypothyroidism in children with anatomically normal thyroid glands. T4 is the primary thyronine produced by the thyroid gland. Only 10-40% of circulating T3 is released from the thyroid gland. The remainder is produced by monodeiodination of T4 in peripheral tissues. T3 is the primary mediator of the biologic effects of thyroid hormone and does so by interacting with a specific nuclear receptor. Receptor abnormalities can result in thyroid hormone resistance. The major carrier proteins for circulating thyroid hormones are thyroid-binding globulin (TBG), thyroid-binding prealbumin (TBPA), and albumin. Unbound, or free, T4 accounts for only about 0.03% of circulating T4 and is the portion that is metabolically active. Infants born with low levels of TBG, as in congenital TBG deficiency, have low total T4 levels but are physiologically normal. Familial congenital TBG deficiency can occur as an X-linked recessive or autosomal recessive condition. The contributions of maternal thyroid hormone levels to the fetus are thought to be minimal, but maternal thyroid disease can have a substantial influence on fetal and neonatal thyroid function. Immunoglobulin G (IgG) autoantibodies, as observed in autoimmune thyroiditis, can cross the placenta and inhibit thyroid function. Thioamides used to treat maternal hyperthyroidism can also block fetal thyroid hormone synthesis. Most of these effects are transient. Radioactive iodine administered to a pregnant woman can ablate the fetus's thyroid gland permanently. The importance of thyroid hormone to brain growth and development is demonstrated by comparing treated and untreated children with congenital hypothyroidism. Thyroid hormone is necessary for normal brain growth and myelination and for normal neuronal connections. The most critical period for the effect of thyroid hormone on brain development is the first few months of life.

Frequency
United States The incidence of congenital hypothyroidism, as detected through newborn screening, is approximately 1 per 4000 births.1 International In areas of iodine deficiency, the prevalence of goiter is reported to range from 5-15% of the population, with a lower incidence of hypothyroidism. Data from most countries with well-established newborn screening programs indicate an incidence of congenital hypothyroidism of about 1 per 3000-4000.2,3 Some of the highest incidences (1 in 1400 to 1 in 2000) have been reported from various locations in the Middle East.4 Although percentages of specific etiologies vary from country to country, ranges are as follows:

Ectopic thyroid - 25-50% Thyroid agenesis - 20-50% Dyshormonogenesis - 4-15% Hypothalamic-pituitary dysfunction - 10-15%

Mortality/Morbidity
Profound mental retardation is the most serious effect of untreated congenital hypothyroidism. Severe impairment of linear growth and bone maturation also occurs. Affected infants whose treatment is delayed can have neurologic problems such as spasticity and gait abnormalities, dysarthria or mutism, and autistic behavior. Two clinical forms of endemic cretinism are described, with considerable overlap between them. The neurologic form is characterized by mental retardation, spasticity, ataxia, and defects in speech and hearing to the point of deaf-mutism. Thyroid function and stature are usually normal. Iodine deficiency in early fetal life is thought to be the cause. In the myxedematous form, marked growth delay, myxedema (a doughy edema of the skin and subcutaneous tissue from proteinaceous fluid), and mental retardation without other neurologic features are present. Considerable geographic variation among the predominant forms and findings is noted.

Race
Congenital hypothyroidism is observed in all populations. The racial differences observed in endemic cretinism are probably related more to geographic location and socioeconomic status than to any particular racial predilection. Some researchers have observed variability in symptoms and signs when comparing groups from one part of the world to another. The explanation for these differences is unclear.

The prevalence at birth is increased in Hispanics, particularly in Hispanic females, who have a birth prevalence of 1 in 1886 births.5 Black infants have about one third the prevalence rate of white infants. Twin births are approximately 12 times as likely to have congenital hypothyroidism as singletons.

Sex
Most studies of congenital hypothyroidism suggest a female-to-male ratio of a 2:1. In 1999, Devos et al showed that much of the discrepancy is accounted for by infants with thyroid ectopy.6 The sex ratio for Hispanics is more striking, with a 3:1 female-to-male ratio. The ratio is lower among black infants.

Age
By definition, congenital hypothyroidism is present at, or before, birth. Children who develop primary hypothyroidism when aged 2 years or older have poor growth and slow mentation but generally do not exhibit the profound and incompletely reversible neurologic abnormalities observed in untreated congenital hypothyroidism.

Clinical
History

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: o Decreased activity o Large anterior fontanelle o Poor feeding and weight gain o Small stature or poor growth o Jaundice o Decreased stooling or constipation o Hypotonia o 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.

Physical

The physical findings of hypothyroidism may or may not be present at birth. Signs include the following: o Coarse facial features o Macroglossia o Large fontanelles o Umbilical hernia o Mottled, cool, and dry skin o Developmental delay o Pallor o Myxedema o Goiter A small but significant number (3-7%) of infants with congenital hypothyroidism have other birth defects, mainly atrial and ventricular septal defects. Newborn screening involves the following: o Infants with congenital hypothyroidism are usually identified within the first 2-3 weeks of life. o These infants should be carefully examined for signs of hypothyroidism, and the diagnosis should be confirmed by repeat testing. o 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.

Causes
Endemic cretinism is caused by iodine deficiency and is occasionally exacerbated by naturally occurring goitrogens.7 Congenital hypothyroidism can be caused by any of the following:

Dysgenesis of the thyroid gland o Agenesis (ie, complete absence of thyroid gland) o Ectopy (lingual or sublingual thyroid gland) Inborn errors of thyroid hormone metabolism - Dyshormonogenesis (most cases are familial and inherited as autosomal recessive conditions) o TSH unresponsiveness (ie, TSH receptor abnormalities) o Impaired ability to uptake iodide o Peroxidase, or organification, defect (ie, inability to convert iodide to iodine) o Pendred syndrome, a familial organification defect associated with congenital deafness o Thyroglobulin defect (ie, inability to form or degrade thyroglobulin) o Deiodinase defect Thyroid hormone resistance (ie, thyroid hormone receptor abnormalities) Maternal autoimmune disease (transient or permanent) Iatrogenic causes - Maternal use of thioamides, iodine excess, radioactive iodine therapy TSH or thyrotropin-releasing hormone (TRH) deficiencies o Hypothyroidism can also occur in TSH or TRH deficiencies, either as an isolated problem or in conjunction with other pituitary deficiencies (eg, hypopituitarism). o If present with these deficiencies, hypothyroidism is usually milder and is not associated with the significant neurologic morbidity observed in primary hypothyroidism.

Neonatal hypothyroidism
MedlinePlus Topics Thyroid Diseases Read More Constipation Failure to thrive Hypothyroidism Jaundice - yellow skin Mental retardation Muscle cramps Newborn screening tests Neonatal hypothyroidism is decreased thyroid hormone production in a newborn. In very rare cases, no thyroid hormone is produced. If the baby was born with the condition, it is called congenital hypothyroidism. If it develops soon after birth, it is referred to as hypothyroidism acquired in the newborn period. Causes Hypothyroidism in the newborn may be caused by:

A missing or abnormally developed thyroid gland Pituitary gland's failure to stimulate the thyroid Defective or abnormal formation of thyroid hormones

Incomplete development of the thyroid is the most common defect and occurs in about 1 out of every 3,000 births. Girls are affected twice as often than boys. Symptoms Most affected infants have few or no symptoms, because they only have a mild decrease in thyroid hormone production. However, infants with severe hypothyroidism often have a distinctive appearance. Symptoms may include:

Puffy-appearing face Dull look Thick, protruding tongue

This appearance usually develops as the disease gets worse. The child may also have:

Dry, brittle hair

Low hairline Jaundice Poor feeding Choking episodes Lack of muscle tone (floppy infant) Constipation Sleepiness Sluggishness Short stature

Exams and Tests A physical exam may reveal:

Abnormally large fontanelles (soft spots of the skull) Broad hands with short fingers Decreased muscle tone Growth failure Hoarse-sounding cry or voice Short arms and legs Widely separated skull bones

Blood tests will be done to check thyroid function. Other tests that may be done include:

Thyroid scan X-ray of the long bones

Treatment Early diagnosis is very important. Most of the effects of hypothyroidism are easily reversible. Replacement therapy with thyroxine is the standard treatment of hypothyroidism. Once medication starts, thyroid blood tests are regularly done to make sure levels are within a normal range. Outlook (Prognosis) Very early diagnosis generally results in a good outcome. Newborns diagnosed and treated in the first month or so generally develop normal intelligence. Untreated, mild hypothyroidism can lead to severe mental retardation and growth retardation. Critical development of the nervous system takes place in the first few months after birth. Thyroid hormone deficiency may cause irreversible damage. Possible Complications

Mental retardation Growth retardation Heart problems

When to Contact a Medical Professional Call your health care provider if:

You feel your infant shows signs or symptoms of hypothyroidism You are pregnant and have been exposed to antithyroid drugs or procedures

Prevention If a pregnant women takes radioactive iodine for thyroid cancer, the thyroid gland may be destroyed in the developing fetus. Infants whose mothers have taken such medicines should be observed carefully after birth for signs of hypothyroidism. Most states require a routine screening test to check all newborns for hypothyroidism. See also: Newborn screening tests Alternative Names Cretinism; Congenital hypothyroidism; Hypothyroidism - infants References Harris KB, Pass KA. Increase in congenital hypothyroidism in New York State and in the United States. Mol Genet Metab. 2007; 91(3):268-277. Update Date: 5/12/2009 Updated by: Robert Cooper, MD, Endocinology Specialist and Chief of Medicine, Holyoke Medical Center, Assistant Professor of Medicine, Tufts University School of Medicine, Boston MA. Review provided by VeriMed Healthcare Network. Also reviewed by Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. Previously reviewed by Alan Greene, MD, FAAP, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital; Chief Medical Officer, A.D.A.M., Inc.

Congenital hypothyroidism refers to hypothyroidism -- a deficiency or lack of thyroid hormone -- at birth. In the era of newborn screening, congenital hypothyroidism is extremely rare. Still, if present, it is especially important that it be diagnosed and properly treated. Failing to properly treat congenital hypothyroidism can negatively affect IQ and neurological development. Congenital hypothyroidism is actually one of the most common -- yet treatable -- causes of mental retardation worldwide. There are two main forms of congenital hypothyroidism -- permanent congenital hypothyroidism and transient congenital hypothyroidism.

Permanent Congenital Hypothyroidism

This sort of hypothyroidism requires lifelong treatment, and has a number of causes:

The most common cause of congenital hypothyroidism is a defect or abnormal development of the thyroid gland, known as dysgenesis. In particular, abnormally located (ectopic) thyroid tissue is the most common defect. Approximately two-thirds of congenital hypothyroidism is a result of dysgenesis. Some infants inherit defects in the ability to synthesize and secret thyroid hormone. These account for approximately 10% of cases of congenital hypothyroidism. Congenital hypothyroidism can be due to a defect in the thyroid hormone transport mechanism. In some infants, central hypothyroidism -- which involves hypothalamic or pituitary problems -- is the cause of congenital hypothyroidism.

Transient Congenital Hypothyroidism

It's thought that 10% to 20% of newborns who are hypothyroid have a temporary form of the condition known as transient congenital hypothyroidism. Transient hypothyroidism in newborns has several causes:

An iodine deficiency in the newborn, which results from insufficient iodine intake in the mother TSH-receptor blocking antibodies (TRB-Ab) in a pregnant woman with autoimmune thyroid disease transferring across the placenta and affecting thyroid function of the fetus, causing hypothyroidism at birth. This does not happen in all women with autoimmune thyroid disease. Typically, when it does, the hypothyroidism resolves in the one to three months after birth as the mother's antibodies are naturally cleared from the infant. Antithyroid drugs (PTU, methimazole) taken by a pregnant woman who is hyperthyroid crossing the placenta, causing hypothyroidism in the newborn. Usually, the hypothyroidism resolves several days after birth, and normal thyroid function returns within a few weeks. Fetus or newborn exposure to very high doses of iodine, which can cause transient hypothyroidism. This sort of iodine exposure results from use of an iodine-based medication like amiodarone (used to treat irregular heart rhythms) in mother or baby, or use of iodine-containing antiseptics or contrast agents.

Signs and Symptoms of Congenital Hypothyroidism

Most newborns with congenital hypothyroidism do not have any signs or symptoms of the condition. This is due to the presence of some maternal thyroid hormone, or some residual thyroid function of their own. But, clinical signs and symptoms can include the following:

Increased birth weight Increased head circumference Lethargy (lack of energy, sleeps most of the time, appears tired even when awake) Slow movement A hoarse cry Feeding problems Persistent constipation, bloated or full to the touch An enlarged tongue Dry skin Low body temperature Prolonged jaundice A goiter (enlarged thyroid) Abnormally low muscle tone Puffy face Cold extremities Thick coarse hair that goes low on the forehead A large fontanel (soft spot) A herniated bellybutton Little to no growth, failure to thrive

Congenital hypothyroidism is more common in infants who have other congenital malformations (mostly heart-related) and Down syndrome.

Detection and Diagnosis of Congenital Hypothyroidism

Congenital hypothyroidism is most often detected by screening of newborns, usually accomplished by a heel prick test done within a few days of birth. The test is usually followed up within two to six weeks after birth. To get the latest on the current state of screening for congenital hypothyroidism, I consulted the trusted online medical reference resource used by many physicians, UpToDate. According to UpToDate: "Screening of all newborns is now routine in all 50 states of the United States, Canada, Europe, Israel, Japan, Australia and New Zealand, and is under development in Eastern Europe, South America, Asia, and Africa. In the United States, for example, more than 4 million infants are screened annually, leading to the detection of 1000 infants with congenital hypothyroidism. Worldwide, it is estimated 12 million infants are screened and 3,000 with hypothyroidism are detected annually."

When the initial blood screening test identifies a potential problem, follow-up typically includes additional blood work and may include other tests, such as thyroid imaging tests. UpToDate has extensive details regarding the various diagnostic procedures used to confirm congenital hypothyroidism and assess its causes.

Prognosis for Congenital Hypothyroidism

If you have a child born with congenital hypothyroidism, what is his or her prognosis? If your child's condition is detected at birth and treated quickly, the prognosis is excellent. According to research, children detected at birth who receive early treatment typically have normal growth and development, and most studies report no difference in IQ. Some studies, however, have found a slight reduction in verbal, math, and IQ scores, as well as slight deficits in memory and attention in some children restored to normal thyroid levels more slowly, due to delayed diagnosis or lower starting doses. Early and sufficient treatment for congenital hypothyroidism is, therefore, especially important. Want to learn more? See UpToDate's topic "Clinical Features and Detection of Congenital Hypothyroidism" for additional, in-depth, current and unbiased medical information on congenital hypothyroidism, including expert physician recommendations.

Congenital Hypothyroidism

10.31.2002 Add new comment Send to friend Print this article Introduction to congenital hypothyroidism: Mental retardation from hypothyroidism can be prevented if the problem is diagnosed and treated early. This is one of the reasons that newborn screening tests are so important. What is congenital hypothyroidism? The thyroid gland produces hormones that influence many states and functions of the body, including energy, temperature, metabolism, growth, and intelligence. Hypothyroidism is the situation where there are either low levels of thyroid hormones or reasons why the thyroid hormones are not able to carry out their functions. Who gets congenital hypothyroidism? Congenital hypothyroidism occurs around the world, but is fairly uncommon. It is twice as common in girls as in boys. Most of the time this is a hereditary condition, but it can occur from other causes such as prenatal exposure to radioiodine or other anti-thyroid drugs. What are the symptoms of congenital hypothyroidism? Symptoms are usually not noticed in newborns until the lack of effective thyroid hormone has already begun doing lasting damage. This is one of the reasons that newborn screening for hypothyroidism is so important. Often these children have prolonged jaundice. They may be poor eaters, with very little interest in feeding. Constipation is common. They tend to cry very little and sleep a lot. They tend to have large heads, large tongues, and large bellies. Most have umbilical hernias. The soft spots on the head are large and close slowly. Some develop respiratory distress. The temperature, heart rate and blood count are usually below normal. Physical development is slowed, with floppy muscles, late teeth, late milestones, and small size. The hands are typically wide but short. Mental development is also slowed. Unless treated, many would never progress to learn to talk. Is congenital hypothyroidism contagious? No How long does congenital hypothyroidism last? Some forms of congenital hypothyroidism are temporary. Others are permanent, but can be effectively managed by giving thyroid hormone. Damage done from untreated hypothyroidism may be permanent, even if treatment is begun later. This is another reason that the newborn screening program is so important.

How is congenital hypothyroidism diagnosed? Most congenital hypothyroidism is discovered on newborn screening tests. This is not always the case, however, and typical symptoms can prompt a blood test to diagnose the problem. How is congenital hypothyroidism treated? Hypothyroidism is treated by consistently giving thyroid hormone. How can congenital hypothyroidism be prevented? Hypothyroidism usually cannot be prevented, but the mental retardation and other complications usually can be prevented by prompt diagnosis and treatment.

Read more: http://www.drgreene.com/azguide/congenital-hypothyroidism#ixzz0djQT3LmS

Congential Hypothyroidism - General Information

A Note to Parents You have just learned that your baby has congenital hypothyroidism. Suddenly, you have a lot of confusion and certainly may be frightened regarding the well being of your new infant. As a concerned parent, you probably wish to learn as much as you can about the condition and, what you and your health care professional can do to help your baby's condition as your child grows and develops. Ask Questions As you learn about congenital hypothyroidism, it is probable that you will have questions that may be specific to your child. Leave no questions unanswered, even if you think the questions are simple or silly. A greater understanding of this condition will allow you to provide optimal care for your child. What is Congenital Hypothyroidism? This is a disorder that affects infants from birth (congenital), resulting from the loss of thyroid function (hypothyroidism), normally due to failure of the thyroid gland to develop correctly. Sometimes the thyroid gland is absent, or ectopic (in an abnormal location). As a result, the thyroid gland does not produce enough thyroxine/T4 after birth. This may result in abnormal growth and development, as

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well as slower mental function. What is the Thyroid Gland? The thyroid is a bow tie shaped gland located in the neck, below the Adam's apple. The thyroid gland is part of the endocrine system. This gland is responsible for secreting a hormone called thyroxine (T4) which plays a vital role in normal growth and development in children. This gland, like other glands in the endocrine system is controlled by the pituitary gland. It works very much like a thermostat. The brain senses the amount of T4 and then signals the thyroid with another hormone, thyroid-stimulating hormone (TSH) to produce more or less T4. When the thyroid gland produces enough T4, no extra stimulation is needed and the TSH level remains at a normal level. When there is not enough T4, the TSH rises. These characteristics of the T4 and TSH hormones allow for screening of newborns to assess whether or not they have hypothyroidism (an under active thyroid gland).

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Want to learn more, talk/network with a parent with Why did My Child Develop Congenital an affected child or read more Hypothyroidism? personal stories from affected families? These features and In most hypothyroid babies, there is no much more are available for specific reason why the thyroid gland did not our Members areas. See also develop normally, although some of these Foundation Information/ children have an inherited form of this Family Services (drop down disorder. Congenital hypothyroidism is present link at the top) for more in about 1/4,000 infants in North America. details. There are a small proportion of children who Online Video's have temporary (transient) congenital hypothyroidism for a period of time after birth. Growth hormone deficiency in It is impossible to distinguish these transient children Video Series (To read hypothyroid babies from those with true the viewing requirements click congenital hypothyroidism and so these infants here and follow the will be treated as well. Often, after the age of 2 instructions.) or 3, children for whom transient or temporary

hypothyroidism is suspected, the medication can be gradually discontinued for a short amount of time on a trial basis. The child will be retested to see if they can remain off medicine. This is not the case for true congenital hypothroidism, whereL-thyroxine is necessary throughout your child's life. Symptoms of Congenital Hypothyroidism Often these babies appear perfectly normal at birth, which is why screening is so vital. However, some may have one or more of the following symptoms:

If you are experienced with online video's-go directly click here). Online Video Webcast about Children's Growth Hormone Deficiency 12 part series Insulin-like Growth Factor Deficiency Brochure Online Video Webcast about Insulin-like Growth Factor Deficiency (IGF) Complaince of Growth Hormone Therapy Growth Hormone Deficiency- Concerns to Transitions (bottom of page) Adult Growth Hormone Deficiency Turner S

Large, despite having poor feeding habits, increased birth weight. Puffy face, swollen tongue. Hoarse cry. Low muscle tone. Cold extremities. Persistent constipation, bloated or full to the touch. Lack of energy, sleeps most of the time, appears tired even when awake. Little to no growth.

Children born with symptoms have a greater risk of developmental delay than children born without symptoms. What Tests are used to Find Congenital Hypothyroidism? The usual way to discover congenital hypothyroidism is by a screening process done on all newborns between 24 and 72 hrs. old. The reason this is done so early is that infants with congenital hypothyroidism usually appear normal at birth and many do not show any of the signs or symptoms noted before. For the screening test, blood is obtained from your babies heel and is placed on a filter paper. At a

laboratory the T4 and/or TSH level is measured. If the T4 is low and/or the TSH is elevated, indicating hypothyroidism, your pediatrician is contacted immediately so treatment can begin without delay. It is likely that the blood test will be repeated to confirm the diagnosis. The physicians may also take an x-ray of the legs to look at the ends of the bones. In babies with hypothyroidism, the bones have an immature appearance which helps to confirm diagnosis of congenital hypothyroidism. A thyroid scan should be done to determine the location, or absence of the thyroid gland. These tests, bone age and thyroid scan can be done at the time of diagnosis. How does one Treat Congenital Hypothyroidism? Treatment for congenital hypothyroidism is replacement of the missing thyroid hormone in pill form. It is extremely important that these pills be taken daily for life because tyroxine/T4 is essential for all the body's functions. In general, the average starting dose for L-thyroxine or Levothyroxine (synthetic T4) in a newborn is between 25 and 50 mcg per day or 10mcg to 15mcg/kg of body weight. This value increases dependent upon the individual needs of the child. The pill can be crushed, then administered in a small amount of water/formula or breast milk while your child is still an infant. Please be aware that Lthyroxine should not be mixed with Soy formula as this product interferes with absorption. Blood tests will be done on a regular basis to ensure that the hormone levels are in a normal range. Thyroid hormone is necessary for normal brain and intellectual development and such development can be delayed when there is a lack of L-thyroxine. With early replacement of adequate thyroid

hormone and proper follow up and care, the outlook for most children with congenital hypothyroidism is excellent. What Type of Medical Attention should My Child Receive? Generally, children are seen every 2 - 3 months, for the first three years, once normal levels have been established. The goal is to maintain the concentration of T4 in the mid to upper half of the normal range (10mg/dL to 16mg/dL) for the first years of life. The TSH level should be maintained within the normal reference range for infants. The treatment for hypothyroidism is safe, simple and effective. Successful treatment, however, depends on life long daily medication with close follow up of hormone levels. Making this procedure of taking medication on a routine basis needs to become a part of the lifestyle of you and your child in order to assure optimal growth and development. Contributing Medical Specialists Deborah Rotenstein, MD. Director of Pediatric Endocrinology Assoc Professor of Pediatrics Allegheny University of Health Sciences Allegheny General Hospital Pittsburgh, PA Thomas P. Foley, Jr., M.D. Professor of Pediatrics University of Pittsburgh Children's Hospital of Pittsburgh Pittsburgh, Pennsylvania ADDITIONAL Pages commonly requested by growth hormone deficient parents:

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type of reproduction is strictly prohibited pending the foundation and author's written authorization. Privacy and enforcement of our authors, families and materials is taken very seriously. Failure to comply with the legal posting of this notice, will be met with legal action. Remember, MAGIC is made up of parents of affected children. If you need to speak to someone about thyroid problems in children feel free to call us (9-4 Central time) or email us anytime!

Congenital Hypothyroidism
Information for Physicians and Other Health Care Providers Definition
Congenital hypothyroidism (CH) occurs when infants are unable to produce sufficient amounts of thyroid hormone (thyroxine, or T4), which is necessary for normal metabolism, growth and brain development.

Clinical Symptoms
Although the clinical signs of hypothyroidism may be subtle, infants with CH may exhibit some of the following symptoms: feeding problems, lethargy, prolonged postnatal jaundice, delayed stooling and constipation, enlarged protruding tongue, hoarse cry, protruding abdomen with an umbilical hernia, cold mottled skin, sluggish reflexes, patent posterior fontanelle with widely spread cranial sutures or delayed skeletal maturation for gestational age.

Newborn Screening and Definitive Diagnosis

In Illinois, primary newborn screening for CH utilizes fluorometric assay to determine the thyroid stimulating hormome (TSH) level. If the TSH is elevated, the T4 level also is tested. False positive and false negative results are possible with this screening. Specimen collection prior to 24 hours of age, prematurity and illness can affect this screening. Infants with a presumptive positive screening test (seriously elevated TSH and/or low T4) require prompt follow-up and, when notified of these results, the clinician should immediately check on the clinical status of the baby and refer the infant to a pediatric endocrinologist. Collection of serum TSH and T4 level also is recommended. Suspect abnormal results (moderately elevated TSH) indicate the

need for repeat filter paper screening. Nearly 90 percent of CH cases are detected by newborn screening; however, the remaining 10 percent must be detected clinically. A small number of children may test normal on the newborn screen but later develop hypothyroidism. Clinicians must remain alert to signs indicative of possible hypothyroidism and clinical symptoms and/or family history of thyroid disorders indicate the need for thyroid testing, regardless of newborn screening results. Same birth siblings (twins, triplets) of infants diagnosed with CH should be re-screened; additional testing of these siblings also may be indicated.

Treatment
Immediate diagnosis and treatment of congenital hypothyroidism in the neonatal period is critical to normal brain development and physical growth. Treatment is usually effective if started within the first few weeks of life. Delayed treatment may result in decreased intellectual capacity. Recommended treatment is lifetime daily administration of levo-thyroxine. Only the tablet form of levo-thyroxine should be prescribed. The U.S. Food and Drug Administration has not approved liquid suspensions. Suspensions prepared by pharmacists may lead to unreliable dosage. The tablets should be crushed daily, mixed with a few milliliters of water, formula or breast milk and fed to the infant. Levo-thyroxine should not be mixed with soy formula or with formula containing iron, as these products interfere with absorption of the medication. Dosage will need to be gradually increased as the infant grows.

Incidence
Congenital hypothyroidism occurs in one of every 3,500 to 5,000 births; it is twice as common in females as in males. CH also is more common in Caucasians than African Americans by 5:1. The incidence of CH may be 40 percent higher among Hispanic populations than among Caucasians. Incidence is believed to be still greater among Native American and Asian populations. Illinois began screening for congenital hypothyroidism in 1979 and has since identified more than 1,500 cases. On average, the Newborn Screening Program identifies 60-70 new cases of CH each year.

Inheritance Pattern
Congenital hypothyroidism occurs sporadically and is not usually an inherited disorder. The disorder is not associated with any prenatal lifestyle or risk factors. A more rare form of CH (about 15 percent of the cases) does involve an inborn (autosomal recessive) error in thyroid hormone synthesis.

Physiology
The thyroid gland produces triodothyronine (T3) and thyroxine (T4) in response to pituitary gland stimulation. The body can convert T3 to T4, and a biofeedback mechanism maintains adequate levels of thyroxine for body metabolism and, in children, normal growth and brain development. Thyroxine, which has no specific target organ sites, is vital to normal function in all organs, tissues and cells in the

body. T4 controls the bodys metabolic rate. Thyro xine deficiency in infancy can cause severe, irreversible mental and physical retardation, a condition known as cretinism. There are several types of primary CH, the most common form resulting from abnormal fetal development of the thyroid gland. The thyroid gland may be absent, mislocated (ectopic) or malformed. Transient hypothyroidism may occur in some infants as a result of maternal exposure to excess iodine, antithyroid medications (propylthiouracil or PTU), or exposure of the infant to maternal antithyroid antibodies. The use of iodine-based skin disinfectants on neonates, especially premature neonates, can inhibit thyroxine production resulting in transient hypothyroidism. Untreated maternal hypothyroidism also can result in low fetal levels of thyroxine.

Key Points for Parents

Avoid overly alarming the childs parents if the diagnosis of CH has not yet been confirmed. If the child needs additional testing or diagnostic evaluation, make certain the parents understand the importance of following the pediatricians and /or specialists recommendations for additional testing and referrals.

Follow-up After Confirmation of Diagnosis

These guidelines should be followed after a diagnosis of congenital hypothyroidism has been confirmed: 1. Parents should understand that treatment for primary congenital hypothyroidism will be lifelong. 2. Parents should understand that treatment is not curative and that all morbidity cannot necessarily be prevented. Long-term management, monitoring and compliance with treatment recommendations are essential to the childs wellbeing. A multidisciplinary approach is recommended and should include the following specialties: pediatrics and endocrinology. Infants and children with congenital hypothyroidism should have regular follow-up appointments with a pediatric endocrinologist. Periodic hearing evaluations also are recommended for children with CH, as hearing disorders are sometimes associated with congenital hypothyroidism. 3. Genetic counseling services may be indicated. A list of counselors and geneticists, whose services are available through the Illinois Department of Public Health, should be given to the parents if they have not already seen a geneticist. 4. Provide a list of support services available within the community, such as the local health department and Early Intervention service providers. 5. For more information about newborn screening in general and about congenital hypothyroidism specifically, contact the National Newborn Screening and Genetics Resource Center, 1912 W. Anderson Lane, Suite

210, Austin, TX 78757; telephone 512-454-6419; fax 512-454-6509. Other resources include: GeneTests and Online Mendelian Inheritance in Man.

Condition: Congenital Hypothyroidism A disorder of the thyroid gland which, if undetected, can lead to deafness or mental retardation. Found in 1 in every ~4,000 children in the US, detection and treatment usually allows a normal life for the child in question. More technical information from the Mountain States Genetic Network: Congenital hypothyroidism is one of the most common conditions detected by newborn screening, with an incidence rate of 1:4,000. Congenital hypothyroidism is caused by inadequate production of thyroid hormone. Thyroid hormone is important for normal function of all of the body's organs and is essential for normal brain development. The most common etiologies are total or partial failure of the thyroid gland to develop (aplasia or hypoplasia), or its development in an abnormal location (an ectopic gland). Less commonly, hypothyroidism is induced by medications (antithyroid drugs or excess iodine) in the mother or is due to an inherited inability to manufacture thyroid hormone. Deficiency of thyroid hormone in an infant causes mental retardation if it is not diagnosed and treated early in life. Most infants with congenital hypothyroidism appear to be clinically normal until three months of age, by which time brain development may be impaired. Diagnosis Laboratory test results are the only reliable means of diagnosing congenital hypothyroidism in the newborn infant. Some of the more commonly described clinical findings -- jaundice, constipation, lethargy, feeding problems, a large tongue, puffy face, distended abdomen, umbilical hernia -- are non-specific for congenital hypothyroidism, are found in fewer than 30% of neonates with congenital hypothyroidism, and may be present in infants without the condition. Therefore, in the newborn, clinical signs and symptoms are not reliable indicators of congenital hypothyroidism. Laboratory Tests All of the states in our region screen for congenital hypothyroidism. All screening programs in our region employ a two-tiered approach in screening for hypothyroidism. All specimens are tested for thyroxine (T4). A subset of samples with the lowest T4 values (usually the lowest 10%) are further tested with a thyroid stimulating hormone (TSH) assay. Congenital hypothyroidism screening results fall into the following categories: the T4 value can be normal or low; the TSH value can be normal, high, or "borderline" -- not normal, but only slightly elevated. Refer to the table on page 15 for the numerical values used in your state screening program.

The AAP guidelines offer the following basic recommendation for follow-up of an abnormal newborn screening test result for hypothyroidism. Any infant with a low T4 level and TSH concentration greater than 40 mU/L is considered to have primary hypothyroidism until proved otherwise. Such infants should be examined immediately and have confirmatory serum tests done to verify the diagnosis. Treatment with replacement l-thyroxine should be initiated before the results of the confirmatory tests are available....In cases in which the screening TSH concentration is only slightly elevated... but less than 40 mU/L, another filter paper specimen should be obtained for a subsequent screening test.(2) Contact your state screening program for their specific recommendations for follow-up of abnormal newborn screening test results for hypothyroidism. -------------------------------------------------------------------------------2American Academy of Pediatrics Newborn Screening for Congenital Hypothyroidism: Recommended Guidelines PEDIATRICS, Vol. 91, No. 6, June 1993, 1203. ---------------------------------------Screening Practice Considerations Detection does not depend on nutritional factors. The majority of hypothyroid infants are detected on the first specimen even if it is collected within a few hours after birth. As is true with other conditions, a blood transfusion may alter the values; the newborn screening specimen should always be collected prior to a blood transfusion, regardless of the infant's age. In the first 24 hours after birth, TSH values may be transiently elevated; the normal newborn demonstrates a TSH surge in the first hours of life as an adaptation to the extrauterine environment. The newborn screen should be collected as late as possible before discharge (but no later than 72 hours of age.) In premature infants, there appears to be a physiological reduction in blood T4 levels. This is not due to TBG deficiency and the TSH levels are not usually elevated. These cases need special follow-up to ensure that the T4 levels rise to the normal range as the infant matures, as will occur in all normal cases. Prompt confirmatory testing is required even if there is evidence to suggest that one of the situations associated with false positive screens is present (e.g., early specimen collection or prematurity). The presence of any of these does not exclude the possibility of disease. A small percentage of cases of congenital hypothyroidism do not develop until after the first weeks of life. Therefore, as with other screening tests, in the presence of clinical symptoms, evaluation for congenital hypothyroidism should be performed despite normal newborn screening results. Treatment Treatment of congenital hypothyroidism is simple and effective. Thyroid hormone (Synthroid or Levothroid), in pill form, is crushed, mixed with food, and administered once daily. (Generic forms of levothyroxine sodium should never be used to treat hypothyroidism.) T4 and TSH levels need to be monitored as the infant grows, and infants and children with hypothyroidism should undergo periodic developmental evaluation. The AAP recommends consultation with a pediatric endocrinologist to facilitate diagnostic evaluation and optimal management. The directory on page 43 lists endocrinology

consultants for your state who can offer assistance with diagnosis and management of congenital hypothyroidism. The purpose of newborn screening is to identify infants at risk and in need of more definitive testing. As with any laboratory test, both false negative and false positive results are possible. Screening test results are insuffi

Congenital Hypothyroidism

An Endocrine Disorder Affecting Newborns

Feb 4, 2008 Erin Legg An explanation of this rare condition, including symptoms and treatment.

Congenital hypothyroidism is a rare endocrine disorder affecting approximately one in 4,000 infants. The thyroid is a small butterfly shaped gland positioned at the base of the neck that produces hormones to regulate the bodys physical and mental growth. Congenital hypothyroidism occurs when an infants thyroid gland does not produce adequate amounts of the thyroid hormone.

Causes of Congenital Hypothyroidism

Most cases of congenital hypothyroidism occur sporadically, resulting from an error in the development of the thyroid gland. In these instances, the thyroid may have failed to develop, may have developed in the wrong location, or may have only partially formed. The error in development results in impairing the function of the thyroid stimulating hormone (TSH). Some cases of congenital hypothyroidism are attributed to inheriting autosomal recessive traits. These cases of inborn errors can affect thyroid metabolism in normally developed thyroid glands.

Iodine deficiency was once a leading contributor to congenital hypothyroidism. With the widespread introduction of iodine into diets, the number of cases in developed countries attributed to iodine deficiency has been significantly reduced.

Symptoms of Congenital Hypothyroidism

Babies with congenital hypothyroidism may have the following symptoms:

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excessive sleeping; poor eating and weight gain; poor muscle tone; weak cry; constipation or irregular bowl movements; exaggerated jaundice; low body temperature; decreased activity; and/or dry skin or brittle hair.

Symptoms are often asymptomatic and can go unnoticed for a period of time. Because of this, it is imperative that the disorder is identified through a newborn screening test.

Diagnosing Congenital Hypothyroidism

A newborn screening test is performed on infants within 24 to 72 hours after birth. This test screens for a number of disorders, including congenital hypothyroidism. Congenital hypothyroidism is detected by increased levels of TSH or decreased levels of thyroxine (T4) in the newborns blood. A pediatric endocrinologist will confirm the results of abnormal screens with an additional blood test. The doctor may also administer an ultrasound to determine the location and state of development of the thyroid gland.

Congenital Hypothyroidism: Treatment and Outcome

Once the diagnosis of congenital hypothyroidism has been confirmed, lifelong treatment with thyroid hormone replacement therapy must begin immediately. The thyroid hormone replacement therapy, levothyroxine, is a synthetic version of the thyroid hormone and is available in the form of a pill. The pill is most effectively administered by placing it on the back of the infants tongue and offering the breast, bottle, or pacifier to initiate swallowing. Liquid preparations of the therapy should be avoided because of potential inconsistencies with its administration. Newborns will require monitoring of the thyroid hormones through regular blood tests. The dosage of the thyroid hormone replacement therapy is adjusted as necessary as the baby grows. The blood tests should typically be performed every two to three months until the age of three years, and more often after each change in dosage. A pediatric endocrinologist will monitor the blood test schedule and treatment. The thyroid is fundamental in babies physical and mental development. If left untreated, congenital hypothyroidism can cause mental retardation and stunted physical growth. If treatment is delayed, irreversible neurological problems can occur. Fortunately, infants who are diagnosed early and begin treatment immediately can develop normally, both physically and mentally. Sources:

Read more at Suite101: Congenital Hypothyroidism: An Endocrine Disorder Affecting Newborns http://infant-toddlerhealth.suite101.com/article.cfm/congenital_hypothyroidism#ixzz0djRmUuW6

Congenital hypothyroid syndrome is a condition in which a child is born with a deficiency in thyroid gland activity or thyroid hormone levels.

Description
The thyroid gland is a small gland in the front of the neck that secretes thyroid hormones called thyroxine (T4) and triiodothyronine (T3) into the bloodstream. Some of the T4 is converted into T3 by the liver and kidney. These thyroid hormones help regulate a great number of processes. A deficiency in the level of these hormones can affect the brain, heart, muscles, skeleton, digestive tract, kidneys, reproductive function, blood cells, other hormone systems, heat production, and energy metabolism.

In most cases of congenital hypothyroidism, the thyroid gland is either completely absent or severely underdeveloped. Sometimes thyroid tissue is located in ectopic, or abnormal, locations along the neck. Other abnormalities can lead to congenital hypothyroidism including:

abnormal synthesis of thyroid hormones; abnormal synthesis of thyroid-stimulating hormone (TSH) or thyrotropin-releasing hormone (TRH), which are regulatory hormones that affect the production of thyroid hormones; abnormal response to thyroid hormones, TSH or TRH; inadvertent administration of harmful drugs or substances to the pregnant mother, possibly resulting in temporary congenital hypothyroidism in the newborn; dietary deficiency of iodine, a raw component vital to the manufacture thyroid hormones.

Genetic profile
Most causes of congenital hypothyroidism are not inherited. Some abnormalities in thyroid hormone synthesis (TSH synthesis), or the response to TSH, are inherited in autosomal recessive fashion. This means that both parents have one copy of the changed (mutated) gene but do not have the condition. Abnormal response to thyroid hormone may be an autosomal dominant condition, meaning that only one parent has to pass on the gene mutation in order for the child to be affected with the syndrome.

Demographics
Congenital hypothyroidism occurs in one in every 4,000 newborns in the United States. It is twice as common in girls as in boys. The condition is less common in African Americans and more common in Hispanics and Native Americans.

Childhood and Congenital Hypothyroidism

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Definition Congenital hypothyroidism (CH) can be defined as a lack of thyroid hormones present from birth which unless detected and treated early, is associated with irreversible neurological problems and poor growth. Some infants may develop a lack of thyroid hormones after birth and this may represent primary hypothyroidism rather than congenital hypothyroidism. Children with primary hypothyroidism do not experience the irreversible neurological problems that are seen with untreated congenital hypothyroidism. Epidemiology

In the United Kingdom 1 in 4,000 live births have CH. The incidence is twice as common in females.1 Areas with iodine deficiency associated with endemic cretinism are Bangladesh, China, Peru and Zaire. This has in part been counteracted by compulsory iodinisation of salt. Italian screening for CH suggests it is more prevalent in multiple pregnancies - the cause of which remains unclear.2

Aetiology The underlying cause can be the result of:

Anatomical defects

Accounts for 75% of all cases. There may be thyroid aplasia, hypoplasia or ectopic thyroid tissue. Not inherited so that chances of another sibling being affected are low.

Disorders of thyroid hormone metabolism

This accounts for 10% of cases.3 Examples include TSH unresponsiveness and defects in thyroglobulin. This is usually inherited and so there is a risk that further children may also be affected.

Hypothalamic or pituitary dysfunction

Hypothalamic-pituitary dysfunction accounts for 5 % of cases of CH. Pituitary hypothyroidism usually occurs with other disorders of pituitary dysfunction e.g. lack of growth hormone. Hypothalamic causes include tumours, ischaemic damage or congenital defects.

Transient hypothyroidism

This accounts for 10 % of cases and is usually related to either maternal medications e.g. carbimazole or to maternal antibodies. In maternal thyroid disease IgG auto-

antibodies can cross the placenta and block thyroid function in utero; this improves after delivery. A number of genetic defects have been associated with CH. This includes mutations in the "paired box gene 8" (PAX8) and the "dual oxidase 2 gene" (DUOX2). The PAX8 gene is involved in the development of various tissues in the embryo. PAX8 is particularly linked to the formation of the kidney and thyroid gland. Several mutations of PAX8 are described with varying degrees of thyroid dysfunction.1

The DUOX2 gene encodes an enzyme called dual oxidase 2 which generates hydrogen peroxide in the thyroid gland, GI tract and the lungs. Dual oxidase 2 is crucial to the production of thyroid hormones.1 Presentation Infants are usually clinically normal at birth due to the presence of maternal thyroid hormones.

Symptoms

Feeding difficulties Somnolence Lethargy Low frequency of crying Constipation

Signs

Large fontanelles Myxoedema - with coarse features and a large head and oedema of the genitalia and extremities Nasal obstruction Macroglossia Low temperature (often <35C) with cold and mottled skin on the extremities Jaundice - prolongation of the physiological jaundice Umbilical hernia Hypotonia Hoarse voice Cardiomegaly Bradycardia Pericardial effusion - usually asymptomatic Failure of fusion of distal femoral epiphyses Growing child will have short stature, hypertelorism, depressed bridge of nose, narrow palpebral fissures and swollen eyelids Refractory anaemia A goitre may be present (more likely with dyshormonogenesis, thyroid hormone resistance and transient hypothyroidism)

5% of patients will also have other congenital defects e.g. atrial septal defects or ventricular septal defects.

Infants not treated early may have delayed mental development, learning difficulties and poor co-ordination. Diagnosis

All babies are screened at birth (with mothers consent) using blood taken via a pin prick and analysed for TSH and T4. This is part of the UK Newborn Screening Programme (the blood is also analysed for phenylketonuria, cystic fibrosis and sickle cell disease).4,5 A high TSH and low T4 confirm the diagnosis. Infants may need to go on to have thyroid ultrasound scanning and / or thyroid radionuclide scanning. Thyroid auto-antibodies are also measured. False positive results are usually due to intercurrent illness and thyroglobulin deficiency.6 Thyroglobulin levels can also be measured - usually total T4 is low with a normal TSH, but free T4 and T3 are with in the normal range. This would require no further treatment. 20% of infants may only have a slight increase in TSH - these patients need to be observed and thyroid function tests repeated in a few months.

Management

The aim of treatment is early detection and early thyroid hormone replacement to ensure that infants do not develop irreversible neurological disability. Thyroxine hormone replacement with L-thyroxine is given once daily and titrated to thyroid function tests (TFTs).7 There is no evidence at present to suggest that higher starting doses of thyroxine have more beneficial effect on outcome compared with standard doses.8 TFTs need to be monitored on a regular basis. The frequency of blood tests can be reduced after the first 2 years of life once adequate replacement is achieved. T4 should ideally be kept in the upper half of the normal range. Transient hypothyroidism need not be treated unless the low T4 and raised TSH persist beyond 2 weeks. Treatment is usually terminated after 3 to 5 months.9

Monitoring patients

Regular monitoring of TFTs. Cross-sectional reference growth charts should be used to monitor child growth. Monitor achievement of childhood milestones. Monitor mental development - four areas need to be reviewed: communication and personality behaviour, language ability, motor ability and adaptive behaviour.9

Adverse effects The main adverse effects are related to the lack of adequate thyroid hormone replacement leading to hypothyroidism or excessive thyroid hormone replacement leading to hyperthyroidism.

Hyperthyroidism in infants is exhibited by tachycardia, anxiety and a disturbed sleep pattern. Prognosis If CH is detected early in infants and treatment begun, normal development of mental function can occur.10 If treatment is delayed spasticity, gait problems and dysarthria and profound mental disability may result. Poor self-esteem and depression are amongst several factors that lead to a poorer quality of life in patients who have been treated for CH.11 A high index of suspicion with careful questioning is required to pick up on these aspects. Acquired hypothyroidism

Commonest cause is lymphocytic thyroiditis. Other causes may be iatrogenic. Typically seen in adolescence, but can occur earlier. First signs are slowing of growth (often unrecognised) with other typical signs of hypothyroidism e.g. skin changes, cold intolerance, sleepiness and low energy. Typically delayed puberty in adolescence but younger children may have galactorrhoea or precocious puberty.

Lymphocytic thyroiditis

Lymphocytic thyroiditis is also known as Hashimoto's autoimmune thyroiditis. It is 4-7 times more common in girls than boys. Usually patients have an enlarged, non-tender thyroid (may appear nodular in around 1 in 3 cases). Many cases are asymptomatic and clinically euthyroid and many stay that way. 25% of other family members may be similarly affected. There is a high incidence in children with Turner's and Down's syndrome.

Other rarer causes include acute suppurative thyroiditis and sub-acute non-suppurative thyroiditis (de Quervain's disease).

Document references 1. Park SM, Chatterjee VK; Genetics of congenital hypothyroidism. J Med Genet. 2005 May;42(5):379-89. [abstract] 2. Olivieri A, Medda E, De Angelis S, et al; High risk of congenital hypothyroidism in multiple pregnancies. J Clin Endocrinol Metab. 2007 Aug;92(8):3141-7. Epub 2007 May 8. [abstract] 3. Kumar PG, Anand SS, Sood V, et al; Thyroid dyshormonogenesis. Indian Pediatr. 2005 Dec;42(12):1233-5. [abstract] 4. Foo A, Leslie H, Carson DJ; Confirming congenital hypothyroidism identified from neonatal screening. Ulster Med J. 2002 May;71(1):38-41. [abstract]

5. Morin A, Guimarey L, Apezteguia M, et al; Linear growth in children with congenital hypothyroidism detected by neonatal screening and treated early: a longitudinal study. J Pediatr Endocrinol Metab. 2002 Jul-Aug;15(7):973-7. [abstract] 6. Kempers MJ, Lanting CI, van Heijst AF, et al; Neonatal screening for congenital hypothyroidism based on T4, TSH and TBG measurement: Potentials and pitfalls. J Clin Endocrinol Metab. 2006 Jun 20. [abstract] 7. Nelson Textbook of Pediatrics. 16th Edition. Behrman RE et al. WB Saunder Co. 2000 8. Hrytsiuk I, Gilbert R, Logan S, et al; Starting dose of levothyroxine for the treatment of congenital hypothyroidism: a systematic review. Arch Pediatr Adolesc Med. 2002 May;156(5):485-91. [abstract] 9. Yang RL, Zhu ZW, Zhou XL, et al; Treatment and follow-up of children with transient congenital hypothyroidism. J Zhejiang Univ Sci B. 2005 Dec;6(12):1206-9. [abstract] 10. Selva KA, Mandel SH, Rien L, et al; Initial treatment dose of L-thyroxine in congenital hypothyroidism. J Pediatr. 2002 Dec;141(6):786-92. [abstract] 11. van der Sluijs Veer L, Kempers MJ, Last BF, et al; Quality of life, developmental milestones, and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening. J Clin Endocrinol Metab. 2008 Jul;93(7):2654-61. Epub 2008 May 6. [abstract]