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.

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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 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.[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): 972–6. doi:10.1016/j.chemosphere.2007.01.010. PMID 17307219. 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): 348–55. 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): 559–78. PMID 17642417. 4. ^ Moltz KC, Postellon DC (1994). "Congenital hypothyroidism and mental development". Compr Ther 20 (6): 342–6. PMID 8062543.

Thus. Indonesia. although many remained impaired. T4). The coupling of one molecule of MIT and one molecule of DIT forms T3. Organification occurs when iodine is attached to tyrosine molecules attached to thyroglobulin. China. As a result. Errors in the formation or migration of thyroid tissue can result in thyroid aplasia. TSH activates the enzymes needed to cleave T4 and T3 from thyroglobulin. The cause of these abnormalities was identified as nonfunctioning or absent thyroid glands. with T4 and T3 attached. Iodide is taken into the thyroid follicular cells by an active transport system and then oxidized to iodine by thyroid peroxidase. obtained for neonatal screening tests. This can occur because of an anatomic defect in the gland. and the cause of endemic cretinism was determined to be iodine deficiency. . The term endemic cretinism is used to describe clusters of infants with goiter and cretinism in defined geographic areas. In the 1930s. Peru. T4 is the primary hormone produced by and released from the thyroid gland. is stored in the follicular lumen.Introduction Background Congenital hypothyroidism is inadequate thyroid hormone production in newborn infants. The term sporadic cretinism was initially used to describe the random occurrence of cretinism in nonendemic areas. Treatment with animal thyroid extract was found to elicit some improvement in these infants. The thyroid arises from the fourth brachial pouches and ultimately ends up as a bilobed organ in the neck. the wholesale iodization of salt was established. an inborn error of thyroid metabolism. and Zaire. The thyroid gland uses tyrosine and iodine to manufacture T4 and triiodothyronine (T3). which was made feasible by the development of radioimmunoassay for thyroid-stimulating hormone (TSH) and thyroxine (T4) from blood spots on filter paper. Despite its efforts. These areas were discovered to be low in iodine. This led to replacement of the descriptive term sporadic cretinism with the etiologic term congenital hypothyroidism. In most situations. the World Health Organization (WHO) has not been able to completely eliminate iodine deficiency throughout the world. or ectopy. the fetal thyroid is capable of producing thyroid hormone. such as regions of Bangladesh. dysplasia. forming monoiodotyrosine (MIT) and diiodotyrosine (DIT). Pathophysiology The thyroid gland develops from the buccopharyngeal cavity between 4 and 10 weeks' gestation. adequate dietary intake of iodine was found to prevent this goiter and cretinism. By 18-20 weeks' gestation. blood levels of T4 have reached term levels. The coupling of 2 molecules of DIT forms tetraiodothyronine (ie. Nepal. Thyroglobulin. or iodine deficiency. By 10-11 weeks' gestation. endemic goiter and cretinism are still observed in some areas. The morbidity from congenital hypothyroidism can be reduced to a minimum by early diagnosis and treatment. The fetal pituitary-thyroid axis is believed to function independently of the maternal pituitary-thyroid axis. Chad.

1 International In areas of iodine deficiency. The remainder is produced by monodeiodination of T4 in peripheral tissues. T4 is the primary thyronine produced by the thyroid gland. Infants born with low levels of TBG. as in congenital TBG deficiency. Immunoglobulin G (IgG) autoantibodies. Familial congenital TBG deficiency can occur as an X-linked recessive or autosomal recessive condition. The major carrier proteins for circulating thyroid hormones are thyroid-binding globulin (TBG).03% of circulating T4 and is the portion that is metabolically active. The importance of thyroid hormone to brain growth and development is demonstrated by comparing treated and untreated children with congenital hypothyroidism.3 Some of the highest incidences (1 in 1400 to 1 in 2000) have been reported from various locations in the Middle East. as observed in autoimmune thyroiditis. as detected through newborn screening. Receptor abnormalities can result in thyroid hormone resistance. T3 is the primary mediator of the biologic effects of thyroid hormone and does so by interacting with a specific nuclear receptor. Frequency United States The incidence of congenital hypothyroidism. Radioactive iodine administered to a pregnant woman can ablate the fetus's thyroid gland permanently.Inborn errors of thyroid metabolism can result in congenital hypothyroidism in children with anatomically normal thyroid glands. T4 accounts for only about 0. have low total T4 levels but are physiologically normal. or free. The contributions of maternal thyroid hormone levels to the fetus are thought to be minimal. ranges are as follows: . Unbound. the prevalence of goiter is reported to range from 5-15% of the population. Only 10-40% of circulating T3 is released from the thyroid gland. Most of these effects are transient.4 Although percentages of specific etiologies vary from country to country. Thyroid hormone is necessary for normal brain growth and myelination and for normal neuronal connections. Data from most countries with well-established newborn screening programs indicate an incidence of congenital hypothyroidism of about 1 per 3000-4000. thyroid-binding prealbumin (TBPA). with a lower incidence of hypothyroidism. and albumin. Thioamides used to treat maternal hyperthyroidism can also block fetal thyroid hormone synthesis.2. can cross the placenta and inhibit thyroid function. but maternal thyroid disease can have a substantial influence on fetal and neonatal thyroid function. is approximately 1 per 4000 births. The most critical period for the effect of thyroid hormone on brain development is the first few months of life.

4-15% Hypothalamic-pituitary dysfunction . dysarthria or mutism.    The prevalence at birth is increased in Hispanics. with considerable overlap between them. Devos et al showed that much of the discrepancy is accounted for by infants with thyroid ectopy. The ratio is lower among black infants.10-15% Mortality/Morbidity Profound mental retardation is the most serious effect of untreated congenital hypothyroidism. or before. In 1999. who have a birth prevalence of 1 in 1886 births. In the myxedematous form. The racial differences observed in endemic cretinism are probably related more to geographic location and socioeconomic status than to any particular racial predilection. congenital hypothyroidism is present at. The explanation for these differences is unclear. marked growth delay. Considerable geographic variation among the predominant forms and findings is noted.6 The sex ratio for Hispanics is more striking. Age By definition. Twin births are approximately 12 times as likely to have congenital hypothyroidism as singletons. with a 3:1 female-to-male ratio. Thyroid function and stature are usually normal.    Ectopic thyroid . The neurologic form is characterized by mental retardation.5 Black infants have about one third the prevalence rate of white infants. Sex Most studies of congenital hypothyroidism suggest a female-to-male ratio of a 2:1. Race Congenital hypothyroidism is observed in all populations. Two clinical forms of endemic cretinism are described. ataxia. . Affected infants whose treatment is delayed can have neurologic problems such as spasticity and gait abnormalities. and autistic behavior. birth. Iodine deficiency in early fetal life is thought to be the cause.25-50% Thyroid agenesis . 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. and defects in speech and hearing to the point of deaf-mutism. Some researchers have observed variability in symptoms and signs when comparing groups from one part of the world to another.20-50% Dyshormonogenesis . and mental retardation without other neurologic features are present. spasticity. particularly in Hispanic females. myxedema (a doughy edema of the skin and subcutaneous tissue from proteinaceous fluid). Severe impairment of linear growth and bone maturation also occurs.

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. cool. Congenital hypothyroidism is more common in infants with birthweights less than 2. macroglossia. can occasionally provide the etiology of the infant's problem. the diagnosis may be straightforward. Maternal history of a thyroid disorder and mode of treatment. mainly atrial and ventricular septal defects. and the diagnosis should be confirmed by repeat testing. Physical      The physical findings of hypothyroidism may or may not be present at birth. whether before or during pregnancy. they are described as "good babies" because they rarely cry and sleep most of the time. 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. Family history should be carefully reviewed for information about similarly affected infants or family members with unexplained mental retardation. hypotonia) at the time of diagnosis have intelligence quotients (IQs) 10-20 points lower than infants without such findings.500 g.000 g or more than 4. Anemia may occur. Infants with congenital hypothyroidism are usually born at term or after term. Signs include the following: o Coarse facial features o Macroglossia o Large fontanelles o Umbilical hernia o Mottled. 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.Clinical History        In regions of iodide deficiency and a known prevalence of endemic cretinism. . enlarged fontanelle. due to decreased oxygen carrying requirement. o Infants with obvious findings of hypothyroidism (eg.

. iodine excess. defect (ie.Maternal use of thioamides. complete absence of thyroid gland) o Ectopy (lingual or sublingual thyroid gland) Inborn errors of thyroid hormone metabolism . radioactive iodine therapy TSH or thyrotropin-releasing hormone (TRH) deficiencies o Hypothyroidism can also occur in TSH or TRH deficiencies. or organification. either as an isolated problem or in conjunction with other pituitary deficiencies (eg. 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.7 Congenital hypothyroidism can be caused by any of the following:       Dysgenesis of the thyroid gland o Agenesis (ie.Dyshormonogenesis (most cases are familial and inherited as autosomal recessive conditions) o TSH unresponsiveness (ie. inability to convert iodide to iodine) o Pendred syndrome. hypothyroidism is usually milder and is not associated with the significant neurologic morbidity observed in primary hypothyroidism. thyroid hormone receptor abnormalities) Maternal autoimmune disease (transient or permanent) Iatrogenic causes . o If present with these deficiencies. TSH receptor abnormalities) o Impaired ability to uptake iodide o Peroxidase. hypopituitarism).Causes Endemic cretinism is caused by iodine deficiency and is occasionally exacerbated by naturally occurring goitrogens.

Girls are affected twice as often than boys. However. Symptoms Most affected infants have few or no symptoms. it is called congenital hypothyroidism. If the baby was born with the condition.000 births. If it develops soon after birth. infants with severe hypothyroidism often have a distinctive appearance. Symptoms may include:    Puffy-appearing face Dull look Thick.Neonatal hypothyroidism MedlinePlus Topics Thyroid Diseases Read More Constipation Failure to thrive Hypothyroidism Jaundice . no thyroid hormone is produced. The child may also have:  Dry. In very rare cases.yellow skin Mental retardation Muscle cramps Newborn screening tests Neonatal hypothyroidism is decreased thyroid hormone production in a newborn. 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. brittle hair . protruding tongue This appearance usually develops as the disease gets worse. it is referred to as hypothyroidism acquired in the newborn period. because they only have a mild decrease in thyroid hormone production.

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

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

abnormally located (ectopic) thyroid tissue is the most common defect.a deficiency or lack of thyroid hormone -. methimazole) taken by a pregnant woman who is hyperthyroid crossing the the cause of congenital hypothyroidism. This does not happen in all women with autoimmune thyroid disease. if present.causes of mental retardation worldwide. Congenital hypothyroidism can be due to a defect in the thyroid hormone transport mechanism. Approximately two-thirds of congenital hypothyroidism is a result of dysgenesis. Congenital hypothyroidism is actually one of the most common -. 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. Transient hypothyroidism in newborns has several causes:     An iodine deficiency in the newborn. Some infants inherit defects in the ability to synthesize and secret thyroid hormone. Fetus or newborn exposure to very high doses of iodine.which involves hypothalamic or pituitary problems -.permanent congenital hypothyroidism and transient congenital hypothyroidism.Congenital hypothyroidism refers to hypothyroidism -. 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. Usually. 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. causing hypothyroidism in the newborn. Failing to properly treat congenital hypothyroidism can negatively affect IQ and neurological development. the hypothyroidism resolves several days after birth. In particular. or use of iodine-containing antiseptics or contrast agents. central hypothyroidism -. known as dysgenesis. Antithyroid drugs (PTU. In some infants. which can cause transient hypothyroidism. In the era of newborn screening. Typically. These account for approximately 10% of cases of congenital hypothyroidism. Permanent Congenital Hypothyroidism This sort of hypothyroidism requires lifelong treatment. Still. when it does. and normal thyroid function returns within a few weeks. it is especially important that it be diagnosed and properly treated. the hypothyroidism resolves in the one to three months after birth as the mother's antibodies are naturally cleared from the infant. . congenital hypothyroidism is extremely rare. and has a number of causes:     The most common cause of congenital hypothyroidism is a defect or abnormal development of the thyroid gland.yet treatable -. There are two main forms of congenital hypothyroidism -. causing hypothyroidism at birth.

The test is usually followed up within two to six weeks after birth. 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. or some residual thyroid function of their own. To get the latest on the current state of screening for congenital hypothyroidism. appears tired even when awake) Slow movement A hoarse cry Feeding problems Persistent constipation. usually accomplished by a heel prick test done within a few days of birth. I consulted the trusted online medical reference resource used by many physicians. Detection and Diagnosis of Congenital Hypothyroidism Congenital hypothyroidism is most often detected by screening of newborns. In the United States. South America. Australia and New Zealand. But.000 with hypothyroidism are detected annually. This is due to the presence of some maternal thyroid hormone. for example. Europe. it is estimated 12 million infants are screened and 3. According to UpToDate: "Screening of all newborns is now routine in all 50 states of the United States. clinical signs and symptoms can include the following:                    Increased birth weight Increased head circumference Lethargy (lack of energy. and Africa.Signs and Symptoms of Congenital Hypothyroidism Most newborns with congenital hypothyroidism do not have any signs or symptoms of the condition. Asia. Canada. and is under development in Eastern Europe. UpToDate. Worldwide. failure to thrive Congenital hypothyroidism is more common in infants who have other congenital malformations (mostly heart-related) and Down syndrome. more than 4 million infants are screened annually. leading to the detection of 1000 infants with congenital hypothyroidism. Japan. sleeps most of the time. Israel." .

When the initial blood screening test identifies a potential problem. Early and sufficient treatment for congenital hypothyroidism is. Prognosis for Congenital Hypothyroidism If you have a child born with congenital hypothyroidism. children detected at birth who receive early treatment typically have normal growth and development. due to delayed diagnosis or lower starting doses. math. in-depth. Want to learn more? See UpToDate's topic "Clinical Features and Detection of Congenital Hypothyroidism" for additional. Congenital Hypothyroidism . have found a slight reduction in verbal. therefore. follow-up typically includes additional blood work and may include other tests. According to research. and most studies report no difference in IQ. such as thyroid imaging tests. as well as slight deficits in memory and attention in some children restored to normal thyroid levels more slowly. Some studies. UpToDate has extensive details regarding the various diagnostic procedures used to confirm congenital hypothyroidism and assess its causes. and IQ scores. including expert physician recommendations. current and unbiased medical information on congenital hypothyroidism. what is his or her prognosis? If your child's condition is detected at birth and treated quickly. especially important. the prognosis is excellent. however.

metabolism. Unless treated. large tongues. including energy. This is another reason that the newborn screening program is so important. This is one of the reasons that newborn screening tests are so important. Most of the time this is a hereditary condition.31. with floppy muscles. Constipation is common. 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. late teeth. What is congenital hypothyroidism? The thyroid gland produces hormones that influence many states and functions of the body. and intelligence. . They tend to cry very little and sleep a lot. late milestones. Some develop respiratory distress. temperature. but can be effectively managed by giving thyroid hormone. Most have umbilical hernias. It is twice as common in girls as in boys. and large bellies. Physical development is slowed.10. Mental development is also slowed. They tend to have large heads. but it can occur from other causes such as prenatal exposure to radioiodine or other anti-thyroid drugs. Who gets congenital hypothyroidism? Congenital hypothyroidism occurs around the world. growth. but is fairly uncommon. with very little interest in feeding.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. heart rate and blood count are usually below normal. They may be poor eaters. The hands are typically wide but short. The soft spots on the head are large and close slowly. Is congenital hypothyroidism contagious? No How long does congenital hypothyroidism last? Some forms of congenital hypothyroidism are temporary. Often these children have prolonged jaundice. Damage done from untreated hypothyroidism may be permanent. This is one of the reasons that newborn screening for hypothyroidism is so important. and small size. The temperature. even if treatment is begun later. 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. many would never progress to learn to talk. Others are permanent.

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

Sometimes the thyroid gland is absent. Ask Questions As you learn about congenital hypothyroidism. what you and your health care professional can do to help your baby's condition as your child grows and develops. normally due to failure of the thyroid gland to develop correctly. A greater understanding of this condition will allow you to provide optimal care for your child. even if you think the questions are simple or silly. resulting from the loss of thyroid function (hypothyroidism). Suddenly. As a result.just insert the numbers and the system does the work for you! Traveling with Growth Hormone Medication Frequently Asked Questions When Beginning Growth Hormone Therapy Part 1 Part 2 .00 Gifts of Love Join Us/Memberships Small for Gestational Age Intrauterine Growth Retardation Insulin-like Growth Factor Deficiency (IGFD) Me & My Growth Hormoneby an affected child Dental Problems with Growth Hormone Deficiency What is normal growth? Abnormalities of Growth (overview of growth failure) Idiopathic Short Stature Constitutional Growth Delay Your first visit to a pediatric endocrinologist Psychosocial Aspects of Children with Short Stature Measuring your child at home Understanding a Growth Chart Online growth chart. or ectopic (in an abnormal location).Congential Hypothyroidism . What is Congenital Hypothyroidism? This is a disorder that affects infants from birth (congenital). you probably wish to learn as much as you can about the condition and. Leave no questions unanswered. as LINKS to Other Areas Relating to this topic $5. you have a lot of confusion and certainly may be frightened regarding the well being of your new infant. the thyroid gland does not produce enough thyroxine/T4 after birth. As a concerned parent. it is probable that you will have questions that may be specific to your child.General Information A Note to Parents You have just learned that your baby has congenital hypothyroidism. This may result in abnormal growth and development.

thyroid-stimulating hormone (TSH) to produce more or less T4. It works very much like a thermostat. org Want to learn more. There are a small proportion of children who Online Video's have temporary (transient) congenital hypothyroidism for a period of time after birth. This gland. although some of these Foundation Information/ children have an inherited form of this Family Services (drop down disorder. When there is not enough T4. like other glands in the endocrine system is controlled by the pituitary gland. Congenital hypothyroidism is present link at the top) for more in about 1/4. no extra stimulation is needed and the TSH level remains at a normal level. 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. What is the Thyroid Gland? The thyroid is a bow tie shaped gland located in the neck. 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.well as slower mental function. When the thyroid gland produces enough T4. The thyroid gland is part of the endocrine system. there is no much more are available for specific reason why the thyroid gland did not our Members areas. 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). after the age of 2 instructions. The brain senses the amount of T4 and then signals the thyroid with another hormone. This gland is responsible for secreting a hormone called thyroxine (T4) which plays a vital role in normal growth and development in children. Often. below the Adam's apple. the TSH rises. details.) or 3. children for whom transient or temporary .000 infants in North America. Transitioning from Childhood Growth Hormone Therapy to Adult Evaluation Process of Adult Growth Hormone Deficiency Listserv's & Blogs Physician Referrals Clinical Trials Memorial Donations Honorary Donations Medical Advisors Fundraising Projects Grandparent's Club Kid's Club Family Services International Links Email us: ContactUs@magicfoundation. See also develop normally.

hypothyroidism is suspected. This is not the case for true congenital hypothroidism. the medication can be gradually discontinued for a short amount of time on a trial basis.Concerns to Transitions (bottom of page) Adult Growth Hormone Deficiency Turner S Large. Little to no growth. appears tired even when awake. At a . Symptoms of Congenital Hypothyroidism Often these babies appear perfectly normal at birth. Lack of energy. increased birth weight. whereL-thyroxine is necessary throughout your child's life. Puffy face. 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. Cold extremities. blood is obtained from your babies heel and is placed on a filter paper. Children born with symptoms have a greater risk of developmental delay than children born without symptoms. old. sleeps most of the time. some may have one or more of the following symptoms:         If you are experienced with online video's-go directly click here). Hoarse cry. 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. swollen tongue. despite having poor feeding habits. bloated or full to the touch. For the screening test. Low muscle tone. Persistent constipation. which is why screening is so vital. The child will be retested to see if they can remain off medicine. However. 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.

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

hormone and proper follow up and care. MD. Successful treatment. The TSH level should be maintained within the normal reference range for infants. Pennsylvania ADDITIONAL Pages commonly requested by growth hormone deficient parents:   Online Growth Charts. PA Thomas P.D.3 months. 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. however.. Foley. Director of Pediatric Endocrinology Assoc Professor of Pediatrics Allegheny University of Health Sciences Allegheny General Hospital Pittsburgh. The treatment for hypothyroidism is safe. Professor of Pediatrics University of Pittsburgh Children's Hospital of Pittsburgh Pittsburgh. 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. once normal levels have been established. What Type of Medical Attention should My Child Receive? Generally. for the first three years. Contributing Medical Specialists Deborah Rotenstein. simple and effective. M. Jr.track your child at home! Tax Free & Tax Deductible Shopping . the outlook for most children with congenital hypothyroidism is excellent. children are seen every 2 . depends on life long daily medication with close follow up of hormone levels.

This article was prepared specifically for The MAGIC Foundation. Any . org LEGAL NOTE:The information in this article is copywritten and legally protected against unauthorized reproduction in any complete or partial form.we protect Parents & our families) Grandparent s Personal Stories by Affected Kids & Adults Photo Album Kid's Birthday Club Kid's PenPal/ Internet Friends Networking MAGIC Scholarships description application Funny Stories Email us: ContactUs@magicfoundation.this is private. which supports our foundation Educational Programs-General Information Members (must use your password) Only Areas Parent's Newsletter Kid's Newsletter Medical Articles/Links Family Websites Grandparent' Additional Resources s Newsletter Personal Listserves (must have a Yahoo Stories by ID.

Infants with a presumptive positive screening test (seriously elevated TSH and/or low T4) require prompt follow-up and. Specimen collection prior to 24 hours of age. infants with CH may exhibit some of the following symptoms: feeding problems. when notified of these results. Suspect abnormal results (moderately elevated TSH) indicate the . delayed stooling and constipation. prolonged postnatal jaundice. Failure to comply with the legal posting of this notice. lethargy. enlarged protruding tongue. 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). hoarse cry. families and materials is taken very seriously. Remember. the T4 level also is tested. will be met with legal action. patent posterior fontanelle with widely spread cranial sutures or delayed skeletal maturation for gestational age. If the TSH is elevated. Clinical Symptoms Although the clinical signs of hypothyroidism may be subtle. prematurity and illness can affect this screening.type of reproduction is strictly prohibited pending the foundation and author's written authorization. False positive and false negative results are possible with this screening. cold mottled skin. Privacy and enforcement of our authors. 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. which is necessary for normal metabolism. protruding abdomen with an umbilical hernia. primary newborn screening for CH utilizes fluorometric assay to determine the thyroid stimulating hormome (TSH) level. growth and brain development. Newborn Screening and Definitive Diagnosis In Illinois. sluggish reflexes. MAGIC is made up of parents of affected children.

The U. in children. Recommended treatment is lifetime daily administration of levo-thyroxine. Same birth siblings (twins. is vital to normal function in all organs. Only the tablet form of levo-thyroxine should be prescribed. mixed with a few milliliters of water. the remaining 10 percent must be detected clinically. Incidence is believed to be still greater among Native American and Asian populations. Levo-thyroxine should not be mixed with soy formula or with formula containing iron. additional testing of these siblings also may be indicated. A more rare form of CH (about 15 percent of the cases) does involve an inborn (autosomal recessive) error in thyroid hormone synthesis.500 cases. however. CH also is more common in Caucasians than African Americans by 5:1. Suspensions prepared by pharmacists may lead to unreliable dosage. Thyroxine. 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. which has no specific target organ sites. Illinois began screening for congenital hypothyroidism in 1979 and has since identified more than 1. formula or breast milk and fed to the infant. Treatment is usually effective if started within the first few weeks of life. The disorder is not associated with any prenatal lifestyle or risk factors.000 births. Incidence Congenital hypothyroidism occurs in one of every 3. On average. Inheritance Pattern Congenital hypothyroidism occurs sporadically and is not usually an inherited disorder. Food and Drug Administration has not approved liquid suspensions. Physiology The thyroid gland produces triodothyronine (T3) and thyroxine (T4) in response to pituitary gland stimulation.S. The tablets should be crushed daily. regardless of newborn screening results. as these products interfere with absorption of the medication.500 to 5. and a biofeedback mechanism maintains adequate levels of thyroxine for body metabolism and. it is twice as common in females as in males. tissues and cells in the . Delayed treatment may result in decreased intellectual capacity. the Newborn Screening Program identifies 60-70 new cases of CH each year. Treatment Immediate diagnosis and treatment of congenital hypothyroidism in the neonatal period is critical to normal brain development and physical growth. The incidence of CH may be 40 percent higher among Hispanic populations than among Caucasians. The body can convert T3 to T4. Nearly 90 percent of CH cases are detected by newborn screening. Dosage will need to be gradually increased as the infant grows.need for repeat filter paper screening. triplets) of infants diagnosed with CH should be re-screened. normal growth and brain development. A small number of children may test normal on the newborn screen but later develop hypothyroidism.

irreversible mental and physical retardation. whose services are available through the Illinois Department of Public Health. such as the local health department and Early Intervention service providers. A multidisciplinary approach is recommended and should include the following specialties: pediatrics and endocrinology. Long-term management. The use of iodine-based skin disinfectants on neonates. Periodic hearing evaluations also are recommended for children with CH. There are several types of primary CH. or exposure of the infant to maternal antithyroid antibodies. Thyro xine deficiency in infancy can cause severe. T4 controls the body’s metabolic rate. 4. Transient hypothyroidism may occur in some infants as a result of maternal exposure to excess iodine. a condition known as cretinism. the most common form resulting from abnormal fetal development of the thyroid gland. monitoring and compliance with treatment recommendations are essential to the child’s wellbeing. Genetic counseling services may be indicated. Parents should understand that treatment is not curative and that all morbidity cannot necessarily be prevented. Untreated maternal hypothyroidism also can result in low fetal levels of thyroxine.body. Anderson Lane. 1912 W. should be given to the parents if they have not already seen a geneticist. For more information about newborn screening in general and about congenital hypothyroidism specifically. If the child needs additional testing or diagnostic evaluation. make certain the parents understand the importance of following the pediatrician’s and /or specialist’s recommendations for additional testing and referrals. 5. Suite . contact the National Newborn Screening and Genetics Resource Center. Key Points for Parents Avoid overly alarming the child’s parents if the diagnosis of CH has not yet been confirmed. 2. The thyroid gland may be absent. as hearing disorders are sometimes associated with congenital hypothyroidism. antithyroid medications (propylthiouracil or PTU). Provide a list of support services available within the community. especially premature neonates. mislocated (ectopic) or malformed. Follow-up After Confirmation of Diagnosis These guidelines should be followed after a diagnosis of congenital hypothyroidism has been confirmed: 1. can inhibit thyroxine production resulting in transient hypothyroidism. Infants and children with congenital hypothyroidism should have regular follow-up appointments with a pediatric endocrinologist. Parents should understand that treatment for primary congenital hypothyroidism will be lifelong. A list of counselors and geneticists. 3.

Less commonly.not normal. Congenital hypothyroidism screening results fall into the following categories: the T4 value can be normal or low.jaundice. Some of the more commonly described clinical findings -. clinical signs and symptoms are not reliable indicators of congenital hypothyroidism. Other resources include: GeneTests and Online Mendelian Inheritance in Man. Refer to the table on page 15 for the numerical values used in your state screening program. telephone 512-454-6419. umbilical hernia -. and may be present in infants without the condition. Congenital hypothyroidism is caused by inadequate production of thyroid hormone. Diagnosis Laboratory test results are the only reliable means of diagnosing congenital hypothyroidism in the newborn infant. constipation. high. Most infants with congenital hypothyroidism appear to be clinically normal until three months of age. with an incidence rate of 1:4. More technical information from the Mountain States Genetic Network: Congenital hypothyroidism is one of the most common conditions detected by newborn screening. feeding problems. but only slightly elevated.000. by which time brain development may be impaired. if undetected. or "borderline" -. Found in 1 in every ~4. . puffy face. TX 78757. can lead to deafness or mental retardation. in the newborn.000 children in the US. All screening programs in our region employ a two-tiered approach in screening for hypothyroidism. distended abdomen. fax 512-454-6509. Thyroid hormone is important for normal function of all of the body's organs and is essential for normal brain development. the TSH value can be normal. A subset of samples with the lowest T4 values (usually the lowest 10%) are further tested with a thyroid stimulating hormone (TSH) assay. Laboratory Tests All of the states in our region screen for congenital hypothyroidism. All specimens are tested for thyroxine (T4). lethargy. Condition: Congenital Hypothyroidism A disorder of the thyroid gland which. The most common etiologies are total or partial failure of the thyroid gland to develop (aplasia or hypoplasia). Austin. detection and treatment usually allows a normal life for the child in question. Deficiency of thyroid hormone in an infant causes mental retardation if it is not diagnosed and treated early in life. Therefore. hypothyroidism is induced by medications (antithyroid drugs or excess iodine) in the mother or is due to an inherited inability to manufacture thyroid hormone. or its development in an abnormal location (an ectopic gland).are non-specific for congenital hypothyroidism. a large tongue.210. are found in fewer than 30% of neonates with congenital hypothyroidism.

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

or may have only partially formed. including symptoms and treatment. resulting from an error in the development of the thyroid gland. 2008 Erin Legg An explanation of this rare condition. The error in development results in impairing the function of the thyroid stimulating hormone (TSH). both false negative and false positive results are possible. Congenital hypothyroidism occurs when an infant’s thyroid gland does not produce adequate amounts of the thyroid hormone. the thyroid may have failed to develop.000 infants. The purpose of newborn screening is to identify infants at risk and in need of more definitive testing. . may have developed in the wrong location. Causes of Congenital Hypothyroidism Most cases of congenital hypothyroidism occur sporadically. Some cases of congenital hypothyroidism are attributed to inheriting autosomal recessive traits. As with any laboratory test. The thyroid is a small butterfly shaped gland positioned at the base of the neck that produces hormones to regulate the body’s physical and mental growth. Congenital hypothyroidism is a rare endocrine disorder affecting approximately one in 4. Screening test results are insuffi Congenital Hypothyroidism An Endocrine Disorder Affecting Newborns Feb 4. These cases of inborn errors can affect thyroid metabolism in normally developed thyroid glands. In these instances.consultants for your state who can offer assistance with diagnosis and management of congenital hypothyroidism.

This test screens for a number of disorders. learn. Diagnosing Congenital Hypothyroidism A newborn screening test is performed on infants within 24 to 72 hours after birth.Iodine deficiency was once a leading contributor to congenital hypothyroidism. www.ZenniOptical. constipation or irregular bowl movements. low body temperature. poor eating and weight gain. A pediatric endocrinologist will confirm the results of abnormal screens with an additional blood test. and/or dry skin or brittle Art & Craft for Kids Art & Craft activities for kids. Make. Symptoms are often asymptomatic and can go unnoticed for a period of time. including congenital hypothyroidism. Symptoms of Congenital Hypothyroidism Babies with congenital hypothyroidism may have the following symptoms: Ads by Google $ 8 Kids Rx Eyeglasses Do You Zenni? Top Rx Glasses Shop Zenni=High Quality Low Cost Glasses          excessive sleeping. it is imperative that the disorder is identified through a newborn screening test. Because of this. decreased activity.. Congenital Hypothyroidism: Treatment and Outcome .Pitara. The doctor may also administer an ultrasound to determine the location and state of development of the thyroid gland. poor muscle tone.. enjoy. With the widespread introduction of iodine into diets. the number of cases in developed countries attributed to iodine deficiency has been significantly reduced. weak cry. exaggerated jaundice. discover. Congenital hypothyroidism is detected by increased levels of TSH or decreased levels of thyroxine (T4) in the newborn’s blood. is a synthetic version of the thyroid hormone and is available in the form of a pill. both physically and mentally. digestive tract. The thyroid hormone replacement therapy. skeleton. and more often after each change in dosage. The blood tests should typically be performed every two to three months until the age of three years. levothyroxine. If treatment is delayed. and energy metabolism. 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. lifelong treatment with thyroid hormone replacement therapy must begin immediately. congenital hypothyroidism can cause mental retardation and stunted physical growth. If left untreated. heat production. irreversible neurological problems can occur. kidneys. The pill is most effectively administered by placing it on the back of the infant’s tongue and offering the breast. Fortunately.suite101.Once the diagnosis of congenital hypothyroidism has been confirmed. . The dosage of the thyroid hormone replacement therapy is adjusted as necessary as the baby grows. other hormone systems.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. Sources: Read more at Suite101: Congenital Hypothyroidism: An Endocrine Disorder Affecting Newborns http://infant-toddlerhealth. bottle. Liquid preparations of the therapy should be avoided because of potential inconsistencies with its administration. reproductive function. Some of the T4 is converted into T3 by the liver and kidney. or pacifier to initiate swallowing. These thyroid hormones help regulate a great number of processes. A pediatric endocrinologist will monitor the blood test schedule and treatment. The thyroid is fundamental in babies’ physical and mental development. A deficiency in the level of these hormones can affect the brain. heart. infants who are diagnosed early and begin treatment immediately can develop normally. Newborns will require monitoring of the thyroid hormones through regular blood tests. blood cells.

Other abnormalities can lead to congenital hypothyroidism including:      abnormal synthesis of thyroid hormones. inadvertent administration of harmful drugs or substances to the pregnant mother. abnormal synthesis of thyroid-stimulating hormone (TSH) or thyrotropin-releasing hormone (TRH).In most cases of congenital hypothyroidism. Demographics Congenital hypothyroidism occurs in one in every 4. Sometimes thyroid tissue is located in ectopic. or abnormal. Some abnormalities in thyroid hormone synthesis (TSH synthesis). a raw component vital to the manufacture thyroid hormones. are inherited in autosomal recessive fashion. meaning that only one parent has to pass on the gene mutation in order for the child to be affected with the syndrome. The condition is less common in African Americans and more common in Hispanics and Native Americans. locations along the neck. It is twice as common in girls as in boys. Genetic profile Most causes of congenital hypothyroidism are not inherited. TSH or TRH. Childhood and Congenital Hypothyroidism Post your experience See others (4 there) . This means that both parents have one copy of the changed (mutated) gene but do not have the condition. which are regulatory hormones that affect the production of thyroid hormones. possibly resulting in temporary congenital hypothyroidism in the newborn. Abnormal response to thyroid hormone may be an autosomal dominant condition. the thyroid gland is either completely absent or severely underdeveloped. dietary deficiency of iodine.000 newborns in the United States. or the response to TSH. abnormal response to thyroid hormones.

Hypothalamic or pituitary dysfunction   Hypothalamic-pituitary dysfunction accounts for 5 % of cases of CH.Definition Congenital hypothyroidism (CH) can be defined as a lack of thyroid hormones present from birth which unless detected and treated early. Disorders of thyroid hormone metabolism    This accounts for 10% of cases.2 Aetiology The underlying cause can be the result of: Anatomical defects    Accounts for 75% of all cases. Children with primary hypothyroidism do not experience the irreversible neurological problems that are seen with untreated congenital hypothyroidism. Some infants may develop a lack of thyroid hormones after birth and this may represent primary hypothyroidism rather than congenital hypothyroidism. Hypothalamic causes include tumours. Not inherited so that chances of another sibling being affected are low. This has in part been counteracted by compulsory iodinisation of salt.g. China. Pituitary hypothyroidism usually occurs with other disorders of pituitary dysfunction e. Transient hypothyroidism  This accounts for 10 % of cases and is usually related to either maternal medications e. is associated with irreversible neurological problems and poor growth. There may be thyroid aplasia.the cause of which remains unclear. In maternal thyroid disease IgG auto- .g. ischaemic damage or congenital defects. hypoplasia or ectopic thyroid tissue. This is usually inherited and so there is a risk that further children may also be affected. The incidence is twice as common in females.3 Examples include TSH unresponsiveness and defects in thyroglobulin. Epidemiology     In the United Kingdom 1 in 4. Italian screening for CH suggests it is more prevalent in multiple pregnancies . Peru and Zaire. carbimazole or to maternal antibodies.1 Areas with iodine deficiency associated with endemic cretinism are Bangladesh.000 live births have CH. lack of growth hormone.

narrow palpebral fissures and swollen eyelids Refractory anaemia A goitre may be present (more likely with dyshormonogenesis.g. A number of genetic defects have been associated with CH. this improves after delivery. Dual oxidase 2 is crucial to the production of thyroid hormones.1 The DUOX2 gene encodes an enzyme called dual oxidase 2 which generates hydrogen peroxide in the thyroid gland. thyroid hormone resistance and transient hypothyroidism) 5% of patients will also have other congenital defects e. The PAX8 gene is involved in the development of various tissues in the embryo. depressed bridge of nose.usually asymptomatic Failure of fusion of distal femoral epiphyses Growing child will have short stature. .prolongation of the physiological jaundice Umbilical hernia Hypotonia Hoarse voice Cardiomegaly Bradycardia Pericardial effusion .1 Presentation Infants are usually clinically normal at birth due to the presence of maternal thyroid hormones. antibodies can cross the placenta and block thyroid function in utero. GI tract and the lungs.with coarse features and a large head and oedema of the genitalia and extremities Nasal obstruction Macroglossia Low temperature (often <35°C) with cold and mottled skin on the extremities Jaundice . Several mutations of PAX8 are described with varying degrees of thyroid dysfunction. PAX8 is particularly linked to the formation of the kidney and thyroid gland. atrial septal defects or ventricular septal defects. hypertelorism. Symptoms      Feeding difficulties Somnolence Lethargy Low frequency of crying Constipation Signs                 Large fontanelles Myxoedema . This includes mutations in the "paired box gene 8" (PAX8) and the "dual oxidase 2 gene" (DUOX2).

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.5 A high TSH and low T4 confirm the diagnosis. This is part of the UK Newborn Screening Programme (the blood is also analysed for phenylketonuria. Monitor mental development . Infants may need to go on to have thyroid ultrasound scanning and / or thyroid radionuclide scanning. Cross-sectional reference growth charts should be used to monitor child growth.usually total T4 is low with a normal TSH. Transient hypothyroidism need not be treated unless the low T4 and raised TSH persist beyond 2 weeks. False positive results are usually due to intercurrent illness and thyroglobulin deficiency.4. language ability. This would require no further treatment. learning difficulties and poor co-ordination. but free T4 and T3 are with in the normal range. Thyroid auto-antibodies are also measured.Infants not treated early may have delayed mental development. Monitor achievement of childhood milestones. 20% of infants may only have a slight increase in TSH . Management      The aim of treatment is early detection and early thyroid hormone replacement to ensure that infants do not develop irreversible neurological disability.9 Monitoring patients     Regular monitoring of TFTs.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.6 Thyroglobulin levels can also be measured . Diagnosis        All babies are screened at birth (with mothers consent) using blood taken via a pin prick and analysed for TSH and T4. Treatment is usually terminated after 3 to 5 months.four areas need to be reviewed: communication and personality behaviour. T4 should ideally be kept in the upper half of the normal range. Thyroxine hormone replacement with L-thyroxine is given once daily and titrated to thyroid function tests (TFTs). The frequency of blood tests can be reduced after the first 2 years of life once adequate replacement is achieved.these patients need to be observed and thyroid function tests repeated in a few months. . motor ability and adaptive behaviour. cystic fibrosis and sickle cell disease).

2005 Dec. There is a high incidence in children with Turner's and Down's syndrome. Foo A.42(12):1233-5. Typically delayed puberty in adolescence but younger children may have galactorrhoea or precocious puberty. De Angelis S. Olivieri A. Ulster Med J. 2005 May. skin changes. non-tender thyroid (may appear nodular in around 1 in 3 cases). Lymphocytic thyroiditis       Lymphocytic thyroiditis is also known as Hashimoto's autoimmune thyroiditis. 2007 Aug. Genetics of congenital hypothyroidism. 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. Kumar PG.11 A high index of suspicion with careful questioning is required to pick up on these aspects. Epub 2007 May 8. [abstract] 2. sleepiness and low energy.g. gait problems and dysarthria and profound mental disability may result. 2002 May. J Clin Endocrinol Metab. Medda E. [abstract] .Hyperthyroidism in infants is exhibited by tachycardia. Sood V. Other rarer causes include acute suppurative thyroiditis and sub-acute non-suppurative thyroiditis (de Quervain's disease).71(1):38-41. cold intolerance. Confirming congenital hypothyroidism identified from neonatal screening. Leslie H. but can occur earlier. [abstract] 3. Other causes may be iatrogenic. Indian Pediatr. 25% of other family members may be similarly affected. High risk of congenital hypothyroidism in multiple pregnancies. Park SM. First signs are slowing of growth (often unrecognised) with other typical signs of hypothyroidism e. Anand SS. Carson DJ.10 If treatment is delayed spasticity. et al. Prognosis If CH is detected early in infants and treatment begun. [abstract] 4. Chatterjee VK. et al. J Med Genet. anxiety and a disturbed sleep pattern. normal development of mental function can occur. Thyroid dyshormonogenesis. Many cases are asymptomatic and clinically euthyroid and many stay that way. Acquired hypothyroidism     Commonest cause is lymphocytic thyroiditis. Typically seen in adolescence. It is 4-7 times more common in girls than boys. Document references 1. Usually patients have an enlarged.92(8):3141-7.42(5):379-89.

2000 8. 2002 Jul-Aug. TSH and TBG measurement: Potentials and pitfalls. J Clin Endocrinol Metab. Apezteguia M. Gilbert R. Morin A. Logan S. J Clin Endocrinol Metab. 2002 Dec. Linear growth in children with congenital hypothyroidism detected by neonatal screening and treated early: a longitudinal study. Behrman RE et al. Quality of life.141(6):786-92. developmental milestones. van der Sluijs Veer L. 2005 Dec. Selva KA. Kempers MJ. [abstract] 7. J Pediatr Endocrinol Metab.6(12):1206-9. [abstract] 11.93(7):2654-61. Kempers MJ. [abstract] 6. et al. [abstract] . Guimarey L. WB Saunder Co. J Pediatr. Treatment and follow-up of children with transient congenital hypothyroidism. 2008 Jul. 2002 May. Zhu ZW. Epub 2008 May 6. Nelson Textbook of Pediatrics. Lanting CI. et al.15(7):973-7. et al.156(5):485-91. Rien L. et al. Mandel SH. Starting dose of levothyroxine for the treatment of congenital hypothyroidism: a systematic review. Neonatal screening for congenital hypothyroidism based on T4. 16th Edition. 2006 Jun 20. and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening. Zhou XL. Last BF. J Zhejiang Univ Sci B. Arch Pediatr Adolesc Med. Initial treatment dose of L-thyroxine in congenital hypothyroidism. [abstract] 9. et al. Hrytsiuk I. et al.5. van Heijst AF. Yang RL. [abstract] 10.

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