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abstract and Introduction

Abstract Recent published reports indicate an increase in congenital hypothyroidism in the United States. Is this increase a result of a true increase in the number of children born with congenital hypothyroidism, new screening procedures, or the reflection of transient hypothyroidism that has not been reclassified? How should the primary care provider proceed when a newborn screening test comes back positive for this treatable but potentially devastating condition? Introduction Harris and ass !"##$% identified an increase during the past two decades of primary congenital hypothyroidism in children in the United States& the incidence rate had increased from ' in (#)* live+births to ' in ",$# live+births. In response to this finding, a workshop of e-perts in hypothyroidism was held to review and analy.e the reported increase incidence rate and identify potential future directions in research that could clarify findings !Hert.berg, /ei, 0 1herrell, "##)& Hinton et al., "#'#& 2lney, 3rosse, 0 4ogt, "#'#& arks et. al., "#'#& Shapira, 5loyd+ uryear, 0 6oyle, "#'#%. 7ongenital hypothyroidism results from an abnormality in thyroid gland development, such as dysgenesis, agenesis, or hypoplasia !an autosomal recessive inborn error of metabolism%, or iodine deficiency, which is rare in the United States but not uncommon in developing parts of the world !8merican 8cademy of ediatrics 988 : et al., "##;& Hinton et al., "#'#& 2lney et al., "#'#%. In addition, maternal autoimmune thyroiditis may inhibit fetal and newborn thyroid functions due to maternal autoimmune antibodies passing to the fetus via the placenta, and radioactive iodine administration to a pregnant woman may permanently ablate the fetus<s thyroid gland ! ostellion 0 =emp, "#''%. >etuses rely on their own endogenous thyroid production that reaches term levels at appro-imately '* to "# weeks gestation !2lney et al., "#'#& ostellion 0 =emp, "#''%. 1he thyroid gland re?uires iodine ingested in the diet for the synthesis of thyro-ine !1(% and triiodothyronine !1,%. hysiologically, 1, is the active hormone in the thyroid and is at least three times stronger than 1( in terms of metabolic potency. 1hyroid hormones are controlled by thyroid stimulating hormone !1SH% secreted from the anterior pituitary gland in a negative feedback system& 1SH levels are increased when 1( and 1, are not being secreted from the thyroid and decreased when 1( and 1, are being e-creted in sufficient ?uantities by the thyroid. 1hyroid hormones are responsible for promoting protein synthesis, controlling growth, and influencing carbohydrate, lipid, and vitamin metabolism !=liegman, 6ehrman, @enson, 0 Stanton, "##*%. Inade?uate secretion of thyroid hormone results in lethargy, cognitive impairment, stunted growth, developmental delay, feeding difficulties, constipation, low core temperature, and bradycardia& if it occurs prenatally, it may cause other congenital anomalies !=liegman et al., "##*%. Aarly diagnosis is e-tremely important due to critical growth of the brain during the first few months of life. 1he prognosis is very good if the disease is diagnosed in its early stages and treated appropriately. Aven with early and ade?uate treatment, some cognitive problems, visual+spatial, language, fine motor, or memory and attention deficits may persist ! ostellion 0 =emp, "#''%.

8ll newborns in the United States should be screened for congenital hypothyroidism !2lney et al., "#'#%. 4ariations in the screening process from state to state include a range of laboratory instrumentation, assorted commercial kits, laboratory+specific diagnostic criteria, and testing techni?ues, such as fluoroimmunoassay !>I8% or en.yme immunometric assay !AI8% !Hert.berg et. al., "#'#%. /any states measure 1( concentrations as a first+tier determination because 1( concentrations are less subBect to the physiologic changes seen after birth than 1SH concentrations !Hert.berg et al., "#'#%. If abnormal first+tier 1( screening levels are found, a recommended or mandated second+tier 1SH screening is necessary.

Incidence and Prevalence


1he analysis of United States data between '))'C"### showed that the congenital hypothyroidism rate increased, but the increased incidence did not occur in all states. Increase was greatest for 7aucasians and occurred in girls more than in boys, with a ratio of "D' !Hinton et al., "#'#& arks et al., "#'#%. 6irth weights, gestational age, and twin gestation appeared to influence the risk for congenital hypothyroidism& newborns with birth weights of less than "### grams or greater than (E## grams and with a gestational age of less than ,$ weeks or greater than (# weeks appear to have an elevated risk for congenital hypothyroidism !Hinton et al., "#'#& 2lney et al., "#'#& Shapira et al., "#'#%. /aternal iodine intake, family history of hypothyroidism, and Hispanic, 8sian, Fative Hawaiian, or other acific Islander race were also found to increase the risk for congenital hypothyroidism !Shapira et al., "#'#%. 1here are several factors that could be responsible for the increased incidence of reported congenital hypothyroidism. 1hese include '% inconsistent medical definitions for congenital hypothyroidism& "% shifting demographics in the race, ethnicity, and rates of preterm births in the United States& ,% changing hypothyroidism screening methods& and (% lack of a universal practice regarding the management and reporting of children identified during newborn screening as having congenital hypothyroidism who subse?uently do not re?uire thyroid supplementation !2lney et al., "#'#& arks et al., "#'#& Shapira et al., "#'#%.

Neonatal Screening for Hypothyroidism


rior to the initiation of newborn screening, congenital hypothyroidism was the leading cause of mental retardation in the United States. Fewborn screening for hypothyroidism is now re?uired in all E# states using a capillary blood sample. 4arious screening methods include fluoroimmunoassay !>I8%, en.yme immunometric assay !AI8%, radioimmunoassay !RI8%, and immunoradiometric assay !IR/8%. Gifferences between newborn screening laboratory methods may cause differences in congenital hypothyroidism rates due to the variance in sensitivity and specificity of the tests !Hert.berg et al., "#'#%. /any laboratories previously using RI8+type screens have now switched to >I8 or AI8+type screens. Interestingly, the laboratories that measured 1( concentrations using the >I8 or AI8+type screen had a "(H higher positive rate for congenital hypothyroidism than laboratories that used the RI8+type screen !Hert.berg et. al., "#'#%. 8fter adBusting for screening methodologies and the various parameters between the E# states, it was determined there was still an increase in congenital hypothyroidism observed during the '))'C"### decade !Hert.berg et al., "#'#%. Fewborn screening is a screening process, not a diagnostic process, and the infant should be referred to a newborn screening center or pediatric endocrinologist for immediate follow up and further testing. 1SH and 1( levels should be repeated, and a thyroid scan should be

scheduled. 1hyroid scanning is an additional diagnostic tool that evaluates for thyroid gland dysgenesis in newborns identified with congenital hypothyroidism by newborn screening programs. 1hyroid gland dysgenesis re?uires life+long thyroid replacement for normal growth and development verses possible transient hypothyroidism !Shapira et al., "#'#%. 1hyroid+binding globulin !163% deficiency results in low serum total 1( levels& however, serum 1SH and serum+free 1( concentrations are normal. 163 affects ' in ,### people and is a common cause of false+positive newborn screening for congenital hypothyroidism. 8ssessment of the serum 163 concentration, preferably with simultaneous serum free and serum total 1( concentrations, confirms the diagnosis of 163 ! ostellion 0 =emp, "#''%.

Transient Hypothyroidism
1ransient hypothyroidism occurs when abnormal levels of 1( or 1SH are found on initial newborn screening but normal concentrations of serum 1( and 1SH are found on subse?uent testing conducted at ' to " months of age ! arks et al., "#'#%. 8bnormal levels on newborn screening may occur due to newborn severe illness, prematurity, e-posure to antithyroid medication in the mother, iodine deficiency, errors in screening, or maternal antithyroid antibodies. In appro-i mately '#H of newborns, maternal thyrotropin receptor+blocking antibodies !1R68s% are the cause of transient congenital hypothyroidism. Fewborn screening programs in the United States may or may not be informed by the primary care provider or the endocrinologist that a case originally reported to be congenital hypothyroidism actually was transient in nature, thus resulting in erroneously elevated rates of reported congenital hypothyroidism !2lney et al., "#'#& arks et al., "#'#& Shapira et al., "#'#%.

The Primary Care Providers Role in Treatment and Management


1he goal of treatment is to normali.e the 1( concentration within "( hours and the 1SH concentration within ' to " weeks !2lney et al., "#'#%. If an infant has abnormal thyroid values, the newborn screening program or primary care provider must refer the infant to a pediatric endocrinologist for testing and evaluation for the diagnosis of congenital hypothyroidism. Initiation of hormone replacement should not occur based solely on a newborn screening result. 1he primary care provider must determine that infants not born in a hospital have been appropriately screened as re?uired by the state, and if in doubt, seek approval to screen the infant for hypothyroidism and all other state+mandated newborn screening. >alse+negative newborn screening results may occur. 8n infant presenting with symptoms consistent with hypothyroidism !such as decreased activity, often described as Igood babyI because they do not cry or demand attention and sleep Iwell,I but are also poor feeders with limited weight gain, poor growth, Baundice, decreased stooling or constipation, large anterior fontanel, and a hoarse cry% must be rescreened. 1he pediatric nurse should be particularly vigilant and seek rescreening if the birth history indicates the infant has any risks factors that would increase the incidence of hypothyroidism, such as low birth weight or maternal history of thyroid problems. arents will need detailed information about their infant<s condition and medical management. 2ral daily hormone replacement with levothyro-ine is the management for hypothyroidism, with an initial starting dose in neonates of '# to 'E JgKkgKday !,$.E to E# JgKday% and in children, ( JgKkgKday !=liegman et al., "##*& 2lney, et al., "#'#%. Infants

re?uire larger dosages per body weight to preserve linear growth and intelligence !=liegman et al., "##*%. 5evothyro-ine only comes in pill form, and caretakers will need to be instructed how to crush and administer the prescribed dose in a small amount of fluid by spoon or dropper, or in a small amount of cereal or pureed food, such as applesauce. Some parents are reluctant to ImedicateI their newborn when the infant appears healthy. A-plaining to parents that their infant lacks an essential hormone, and the levothyro-ine is Bust replacing that hormone may help parents accept the need for the medication. arents must be informed that daily medication is essential for normal brain growth and development, and any difficulty administering the complete dosage should be reported so the nurse can help the parents problem solve administration problems. Infants who are on or switched to soy formula will need careful monitoring because soy+based formulas may decrease the absorption of levothyro-ine. Switching an infant from a milk+based formula to a soy+based formula may re?uire increasing the dose of thyroid hormone needed to maintain a euthyroid state. rimary care providers usually and advisably, and working in conBunction with pediatric endocrinologists, are responsible for serum testing of 1SH and free 1( concentrations to determine ade?uacy of thyroid replacement and adherence to pharmacotherapy. 1his is usually done ( to ; weeks after the initiation of therapy and then every ' to , months during infancy and " to ( months during the toddler period with increased fre?uency after a change in dosage. If the cause of hypothyroidism is not due to an identified inborn error of metabolism or an anatomical defect or dysgenesis, a re+evaluation of the need for thyroid replacement is usually done at , years of age. 8 child found to have transient hypothyroidism should continue to be monitored on a yearly basis by an endocrinologist and the newborn screening program for the state notified of the child<s new diagnosis. If the child remains hypothyroid at , years of age, thyroid hormone replacement and medical monitoring are usually re?uired for life ! ostellion 0 =emp, "#''%. 8ll infants and children with congenital hypothyroidism should be closely monitored for growth !height, weight, and head circumference% and development. /onthly primary care visits during the first year of life may be indicated. Referral for neurodevelopmental screening and assessment is often recommended to monitor development !88 et al., "##;& ostellion 0 =emp, "#''%. Aarly childhood intervention program, such as 6irth to 1hree, may be encouraged& continued psychometric evaluation should be offered in school to identify learning, motor, or attention difficulties so early interventions can be initiated. Lhen inborn errors of thyroid hormone production are suspected, genetic counseling should be offered.

uture !irections for Study


7onsistent and stringent definitions and diagnostic criteria are needed for both congenital and transient hypothyroidism across all E# states so the true incidence of congenital hypothyroidism can be determined !Shapira et al., "#'#%. 7onsistency in diagnosis will assist in identifying risk factors for congenital hypothyroidism, especially potentially modifiable risk factors, such as maternal iodine deficiency !Shapira et al., "#'#%. Shapira and colleagues !"#'#% suggested that researchers partner with newborn screening laboratories that measure 1SH and compare the distributions of 1SH values among newborns over time with 1SH values among pregnant women& a relationship may be identified between maternal iodine concentrations and newborn hypothyroidism.

>uture research needs to look at the ideal management of both congenital and transient hypothyroidism that minimi.es long+term cognitive and fine motor se?uella. Lith the movement to electronic medical records, notification and follow up for positive results can hopefully be e-pedited and treatment started in the first few days of life. 5ongterm follow up of children into adulthood to monitor abilities and growth could result in identification of ideal management strategies. 8 li?uid formulation of levothyro-ine might enable more age+ or weight+specific dosing, such as with insulin, that would support the growth needs of the infant<s rapidly growing brain. ilot proBects are re?uired to confirm practices and management of congenital hypothyroidism by primary care providers and endocrinologists !2lney et al., "#'#& Shapira et al., "#'#%.

Conclusion
7ongenital hypothyroidism can result in profound cognitive and developmental delays in infants and children unless diagnosed within days of birth and treatment initiated. 1he incidence of congenital hypothyroidism may have doubled during the past decade, but variability of screening techni?ues and criteria for a positive newborn screening result vary across the United States. ediatric primary care providers and pediatric nurses must monitor newborn screening results and make sure infants with a positive screen are seen by a pediatric endocrinologist for diagnosis and initiation of treatment. 1hey must educate parents on the condition and importance of fre?uent serum monitoring of thyroid levels to assure optimal growth and development of the infant and child.