Neonatal Screening For Congenital Hypothyroidism Research Articles

“False-Positive” Newborn Thyroid Screen May Predict Future Subclinical Hypothyroidism

Endocrinology| September 01 2008 “False-Positive” Newborn Thyroid Screen May Predict Future Subclinical Hypothyroidism AAP Grand Rounds (2008) 20 (3): 31–32. https://doi.org/10.1542/gr.20-3-31-a Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Twitter LinkedIn Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation “False-Positive” Newborn Thyroid Screen May Predict Future Subclinical Hypothyroidism. AAP Grand Rounds September 2008; 20 (3): 31–32. https://doi.org/10.1542/gr.20-3-31-a Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search nav search search input Search input auto suggest search filter All PublicationsAll JournalsAAP Grand RoundsPediatricsHospital PediatricsPediatrics In ReviewNeoReviewsAAP NewsAll AAP Sites Search Advanced Search Topics: false-positive results, subclinical hypothyroidism, thyroid screening, thyrotropin, hyperthyrotropinemia, thyroid function tests Source: Leonardi D, Polizzotti N, Carta A, et al. Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism. J Clin Endocrin Metab. Rapid Electronic Publication first published on April 29, 2008; doi:10.1210/jc.2007-2612 To better understand the natural history of children with unexplained transient increase in thyroid stimulating hormone (TSH) in the newborn period, researchers from the University of Catania in Catania, Italy, followed children who had a “false positive” newborn thyroid screen into late childhood. This study was an extension of previously published work describing children with transient increase in TSH who, when studied at 16–44 months of age, demonstrated a high incidence (50%) of subclinical hypothyroidism.1 Infants with Down syndrome, prematurity, small for gestational age, and newborns of thyroid autoimmunity-positive mothers were excluded. Thyroid function and morphology in children with transient unexplained hyperthyrotropinemia in infancy were compared with control children who had normal newborn TSH levels at three time periods: age 16–44 months, age 4.1–6.6 years, and age 7.2–9.5 years. Measures of function included TSH, free T4 (FT4), free T3 (FT3), anti-thyroglobulin (anti-Tg), and anti-thyroperi-oxidase (anti-TPO) antibodies. Morphology was evaluated by ultrasound and thyroid volume was calculated and compared with reference values. A total of 44 children were followed until an average age of eight years. At age 16–44 months all children had a normal serum FT4, but mean serum TSH and FT3 levels were significantly higher than those of controls. Based on TSH levels at this time, children were divided in two groups: group 1 (16 patients) had normal serum TSH levels of <4.0mU/L and group 2 (28 patients) had slightly elevated serum TSH (4.0–10.1 mU/L). Levothyroxine treatment was given to reduce TSH in 20 of 28 children in group 2. At age 4.1–6.6 years, serum FT4 was within normal range in all children, with average values similar in groups 1 and 2. Serum TSH was within normal range in all 16 group 1 children and in nine of 28 group 2 children (group 2a); however, when the 25 children with normal serum TSH were compared with the control group, their average TSH levels were significantly higher. In the remaining 19 of 28 group 2 children, serum TSH was persistently elevated (group 2b). FT3 values were significantly higher compared with controls. Anti-thyroid antibodies (anti-TPO and/or anti-Tg) were slightly positive in 11 of 44 children in early childhood; however, they were weakly positive in only one child in group 2 at 30 months of age. At age 7.2–9.5 years, TSH serum values remained in the normal range in all group 1 children and in the nine group 2a children. Of the 19 group 2b children, TSH remained elevated in 14 but normalized in five children. Of the eight children treated with levothyroxine, seven had persistent elevation of TSH. Out of these seven children, six were determined to have genetic and/or morphological abnormalities of the thyroid as the possible cause of their... You do not currently have access to this content.

Neonatal screening for congenital hypothyroidism in the Federation of Bosnia and Herzegovina: eight years’ experience

This report demonstrates the prevalence of primary congenital hypothyroidism (CH) in the Federation of Bosnia and Herzegovina and summarizes the laboratory data. Neonatal thyroid-stimulating hormone (TSH) was measured in whole blood drawn between the 3rd and 5th days of life and spotted on filter paper using the fluorometric assay. Among the 87,061 neonates, 22 had CH, 13 dysgenetic forms, and nine with thyroids in situ. No differences were found between the two types in terms of TSH and total T4 concentrations. However, thyroglobulin was significantly lower in patients with dysgenetic thyroid tissue (p=0.0023). We conclude that the prevalence of CH in the Federation of Bosnia and Herzegovina is 1:3,957 newborns.

Role of Corticotropin-Releasing Hormone Testing in Assessment of Hypothalamic-Pituitary-Adrenal Axis Function in Infants with Congenital Central Hypothyroidism

The Dutch neonatal congenital hypothyroidism (CH) screening program detects infants with CH of central origin (CH-C). These infants have a high likelihood of multiple pituitary hormone deficiencies. ACTH deficiency especially poses an additional risk for brain damage and may be fatal. Our objective was to evaluate different tools for assessment of the integrity of the hypothalamus-pituitary-adrenocortex (HPA) axis in young infants, aiming for a strategy for reliable and timely diagnosis. This is a Dutch nationwide prospective study (enrollment 1994-1996). Patients were included if neonatal CH screening results were indicative of CH-C and HPA axis function could be tested within 6 months of birth. Nine male and three female infants with CH-C and four infants with false-positive screening results or transient hypothyroidism were included in the study. CRH test results, multiple cortisol plasma concentrations, and cortisol excretion in 24-h urine were measured. Six (50%) of the CH-C patients had abnormal CRH test results. Three of them had discordant test results: impaired increase of plasma cortisol in response to CRH, despite substantial increase of plasma ACTH. The other three infants, with concordant impaired responses of both ACTH and cortisol to CRH, had a very low urinary cortisol excretion in comparison with the subjects with normal CRH test results. The CRH test proves to be a fast and reliable tool in the assessment of HPA axis (dys)function. It enables timely diagnosis in (asymptomatic) neonates at risk for serious morbidity and mortality. The discordant response type, which has not been described before, may be an early phase of HPA axis dysfunction. Alternatively, patients with this response type may constitute a separate pathogenetic subset of HPA axis-deficient patients.

Longitudinal Study of Thyroid Function in Children with Mild Hyperthyrotropinemia at Neonatal Screening for Congenital Hypothyroidism

Long-term outcome of thyroid function in children with very short-lasting neonatal hyperthyrotropinemia ("false positive" at neonatal screening) was studied in an observational, prospective study. Thyroid function and morphology were evaluated in 44 "false positive" children up to advanced childhood (8.0 +/- 0.7 yr of age). In these children a high prevalence (50%) of subclinical hypothyroidism in early childhood (2.8 +/- 0.5 yr) had already been described. At an average of 5.3 yr, subclinical hypothyroidism persisted in 19 of 44 (43.2%) children and, more specifically, in two of three of those who had increased TSH in early childhood. Euthyroidism was present in all cases that were euthyroid in early childhood, although they had TSH and free T(3) values significantly higher than control children with a normal TSH at birth (TSH = 2.6 +/- 0.7 vs. 1.5 +/- 0.6 mU/liter, P < 0.001; free T(3) = 4.9 +/- 0.8 vs. 3.9 +/- 0.9 pmol/liter, P < 0.01). Thyroid morphology alterations were frequent in the group of children with subclinical hypothyroidism. At an average of 8.0 yr, subclinical hypothyroidism persisted in 14 of 44 (31.8%) children. In all other children, TSH and thyroid hormones were confirmed within the normal range. This prospective longitudinal study confirms that newborns "false positive" at neonatal screening have a high risk to develop persistent subclinical hypothyroidism. The prevalence of hypothyroidism decreases with increasing age, but it is still high (>30%) in late childhood. Even those "false positive" children that maintain euthyroidism in late childhood have an average TSH value that, although within the normal range, is higher than in normal controls, a possible marker of minor congenital thyroid function abnormalities.

Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism

Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism

Pilot Study on Neonatal Screening for Congenital Hypothyroidism in Iraq

Pilot Study on Neonatal Screening for Congenital Hypothyroidism in Iraq

Iodine deficiency in pregnant women and neonates in Thailand

To present data on the relationship between the concentration of thyroid-stimulating hormone (TSH) in whole blood or serum from neonates and the concentration of iodine in their mother's urine collected at birth to contribute to the contention that the recommended iodine intake during pregnancy should be increased. Data were provided by current programmes of neonatal screening of congenital hypothyroidism in Bangkok and rural areas of Thailand. A total of 5144 cord serum samples were collected in 2003 and measured for TSH concentrations. Paired samples of blood and urine were collected in 2000 from 203 infants and their mothers and from 1182 infant-mother pairs in 2002-03 in six rural provinces. Iodine was measured in the urine and TSH was measured in cord serum. The urinary iodine concentration of mothers in rural Thailand is adequate, with a median of 103 microg l-1. However, in 2000, the median urinary iodine concentration of mothers in Bangkok was only 85 microg l-1. The concentration of TSH in whole blood collected on filter paper from neonates was not sensitive enough to be used as a monitoring tool for iodine nutrition in the neonates, as there was no relationship with the concentration of iodine in the urine of the children's mothers. This was in contrast to the concentration of TSH in serum collected from cord blood. Several conclusions were drawn from this data: 1) Neonatal TSH screening using whole blood collected from a heel prick at 3 days of age is not sensitive enough to assess the iodine nutrition of neonates; 2) Neonatal TSH screening using cord sera can be used to assess iodine nutrition in neonates; 3) The optimum median maternal urinary iodine concentration in Thailand appears to be 103 microg l-1; 4) The criteria proposed by WHO, UNICEF, and ICCIDD to assess iodine nutrition using data on neonatal TSH concentrations should be reassessed; and 5) Neonatal TSH screening can be effectively performed by collecting cord serum in district hospitals in Thailand.

Role of the Thyrotropin-Releasing Hormone Stimulation Test in Diagnosis of Congenital Central Hypothyroidism in Infants

A shortage of thyroid hormone during prenatal life and the first years after birth results in a spectrum of neuropsychological disorders, depending on the duration and severity of the deficiency. In the case of congenital hypothyroidism of central origin (CH-C), the majority of patients have multiple pituitary hormone deficiencies (MPHD). This condition poses an additional threat to postnatal central nervous system development, primarily on account of neuroglycopenia due to ACTH/cortisol deficiency with or without additional GH deficiency. Therefore, in CH-C, rapid diagnosis is even more urgent than in congenital hypothyroidism of thyroidal origin. In the assessment of hypothalamic-pituitary-thyroid function, we considered the pituitary response to iv administration of TRH (TRH test) pivotal. We evaluated the usefulness of the TRH test in a cohort of infants with neonatal congenital hypothyroidism screening results indicative of CH-C by analyzing the results within the framework of investigations of the anatomical and functional integrity of the hypothalamo-hypophyseal system. The study was a Dutch nationwide prospective study (1994-1996). Patients were included if neonatal congenital hypothyroidism screening results were indicative of CH-C and patients could be tested within 3 months of birth. Ten male and five female infants with CH-C, detected by neonatal screening, and six infants with false-positive screening results, nonthyroidal illness, or transient hypothyroidism, were included in the study. Results of TRH tests, within the framework of extensive endocrinological examinations and cerebral magnetic resonance imaging, were measured. All patients with type 3 TSH responses to TRH had MPHD, and the majority (67%) of patients with type 2 responses had isolated TSH deficiency. The TRH test has a pivotal role in the diagnosis of TSH deficiency in young infants. Abnormal TRH test results, especially a type 3 response, urge immediate assessment of integral hypothalamic-pituitary function because the majority of patients have MPHD.

Severe skeletal dysplasia caused by undiagnosed hypothyroidism

Due to increased awareness of early clinical signs and introduction of neonatal screening for congenital hypothyroidism, long-term untreated hypothyroidism has become rare. Nevertheless, neonatal screening for congenital hypothyroidism is not performed in all countries, and not every affected patient might be picked up by neonatal screening alone. Here we describe a case of congenital hypothyroidism due to an ectopic thyroid that was not diagnosed for 13 years and resulted in severe skeletal changes beside mental disablement. The patient showed coarse facial features (hypertelorism, broad flat nasal bridge, broad face) and a severe truncal shortening due to kyphoscoliosis of the spine. X-rays detected highly retarded bone age, a widely opened anterior fontanelle, immature, flat bodies of the vertebra with ventral beaked deformities mainly in the lumbar region and no ossification centres in the head of the femurs. In this patient we found no evidence for a mutation of the PAX8 gene known to cause an ectopic and/or hypoplastic thyroid.

Neonatal Screening for Congenital Hypothyroidism in The Netherlands: Cognitive and Motor Outcome at 10 Years of Age

Patients with thyroidal congenital hypothyroidism (CH-T) born in The Netherlands in 1981-1982 showed persistent intellectual and motor deficits during childhood and adulthood, despite initiation of T(4) supplementation at a median age of 28 d after birth. The present study examined whether advancement of treatment initiation to 20 d had resulted in improved cognitive and motor outcome. In 82 Dutch CH-T patients, born in 1992 to 1993 and treated at a median age of 20 d (mean, 22 d; range, 2-73 d), cognitive and motor outcome was assessed (mean age, 10.5 yr; range, 9.6-11.4 yr). Severity of CH-T was classified according to pretreatment free T(4) concentration. Cognitive and motor outcome of the 1992-1993 cohort in comparison to the 1981 to 1982 cohort was the main outcome measure. Patients with severe CH-T had lower full-scale (93.7), verbal (94.9), and performance (93.9) IQ scores than the normative population (P < 0.05), whereas IQ scores of patients with moderate and mild CH-T were comparable to those of the normative population. In all three severity subgroups, significant motor problems were observed, most pronounced in the severe CH-T group. No correlations were found between starting day of treatment and IQ or motor outcome. Essentially, findings from the 1992-1993 cohort were similar to those of the 1981-1982 cohort. Apparently, advancing initiation of T(4) supplementation from 28 to 20 d after birth did not result in improved cognitive or motor outcome in CH-T patients.

Neonatal screening for hypothyroidism: economic aspects

The cost efficiency of neonatal screening for congenital hypothyroidism has been estimated. The cost of one newborn screening Is 99.37 rubles and that of detection of a patient with congenital hypothyroidism are 430,582.67 rubles. The state's negative profits due to patients disability, which includes social security benefits and undone gross domestic product, have been stated to be 5,687,356 0 rubles per disabled person. The cost efficiency of neonatal screening is determined by the absence of a need for social payments and by the amount of gross domestic product, which are made by these patients due to their preserved working ability and it is 5.35 rubles per ruble invested in a screening program.

Impact of iodine deficiency on the thyroid and neuromental development in children with neonatal transient hypothyroidism

Ninety-five preschool age children living in an iodine deficiency area were examined. Neonatal screening forcongenital hypothyroidism showed that 79 and 16 children had a thyroid-stimulating hormone (TSH) level of 20-50 and 51-100 uIU/ml, respectively, which became normal in the first 6 months of life. A control group comprised 35 children of the same age who had a TSH level of as high as 20 uIU/ml. A study of thyroid function revealed subclinical hypothyroidism in 16.8% of cases and an isolated increase in free triiodothyronine with the normal levels of TSH and free T«. Volumetry Indicated detected thyroid hypoplasia in 36.8% of the children. In the study group, the neuropsychological development Index was 90-110scores in 38(40.0%) children, 80-89 scores in 24(25.3%), and less than 80 scores In 33 (34.7%). The found changes in the pituitary-thyroid system in the study group determine a risk for thyroid disease and cognitive defects, which requires a follow-up of such children and drug correction of thyroid function.

Valores normales de TSH en el cribado neonatal del hipotiroidismo congénito en nacimientos gemelares

A large number of articles have been published since neonatal screening for congenital hypothyroidism (CH) started in the 1970s. Surprisingly, little information on false negative results in these screenings has been reported.Thyroid-stimulating hormone (THS) levels were determined in 360,651 newborn infants in Malaga until March 2005. One hundred and fifty-six CH cases were detected, of which 86 % were permanent and 14 % were transient. In this study, we retrospectively analyzed a group of 13 CH dizygotic twins in which only one of the twins had CH.The first two patients were diagnosed late and data on whether they were included in neonatal screening were lacking. In seven of the 13 patients, TSH values were initially normal: five patients were diagnosed by a second test performed 14 days after birth and were treated before they were 1 month old, and two were diagnosed and treated late because a second test was not performed. In the remaining four patients, TSH values were initially elevated but were lower than confirmation test values.It is now widely accepted that thyroid function could be compensated between two dizygotic twins if only one of the twins has CH, leading to a false negative result. The results of the present study indicate the need to repeat the test for CH 14 days after birth in all dizygotic twins.

Neonatal Screening for Congenital Hypothyroidism Based on Thyroxine, Thyrotropin, and Thyroxine-Binding Globulin Measurement: Potentials and Pitfalls

The Dutch T(4)-TSH-TBG-based neonatal screening program detects patients with congenital hypothyroidism (CH) of thyroidal (CH-T) as well as central (CH-C) origin. The numbers and characteristics of true-positive and false-positive referrals will differ from other, predominantly TSH-based, screening methods. The present study describes the characteristics of the referred neonates, both CH patients and false positives, and of the reported CH patients with a false-negative screening result born in the study period. For each referred child born between April 1, 2002, and May 31, 2004, screening results and first venous sample results were recorded and classified as transient or permanent CH-T or CH-C or as no CH. In the study period, 430,764 children were screened. Of the 772 children with abnormal screening results, 224 (29%) had CH; another 13 CH patients did not have abnormal screening results, giving an overall CH incidence of 1:1800. Incidences of permanent CH, permanent CH-T, permanent CH-C, and transient CH were 1:2200, 1:2500, 1:21,000, and 1:12,000, respectively. The most frequent explanations for the 548 false-positive referrals (71% of the referred cohort) were severe illness and TBG deficiency (occurring in 198 and 200 children, respectively). The Dutch incidence figures for CH belong to the highest worldwide, suggesting that the T(4)-TSH-TBG screening program is an efficient method to detect CH of variable etiology and severity. Still, a small percentage of children with CH escaped detection via this screening approach. Severe illness and TBG deficiency appear to be responsible for the majority of false-positive referrals.

Newborn Screening for Congenital Hypothyroidism

Most neonates born with congenital hypothyroidism (CH) have normal appearance and no detectable physical signs. Hypothyroidism in the newborn period is almost always overlooked and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Blood spot T4 or TSH or both can be used in neonatal screening for CH. The latter, which is more sensitive, is not cost effective, so the first two are used in different programs in the world. TSH screening was shown to be more specific in the diagnosis of CH; T4 screening is more sensitive in detecting newborns especially with rare hypothalamic-pituitary hypothyroidism, but less specific with a high frequency of false positives mainly in low birth weight and premature infants. The time at which the sample is taken may vary between centers, with the majority taking blood from a heel prick after 24 hours of age to minimize the false positive high TSH due to the physiological neonatal TSH surge that elevates TSH levels and causes dynamic T4 and T3 changes in the first 1 or 2 days after birth. Early discharge of mothers postpartum has increased the ratio of false positive TSH elevations. Although transient hypothyroidism may occur frequently, all suspected infants should be treated as having CH for the first 3 years of life, taking into account the risks of mental retardation. A reevaluation after 3 years is needed in such patients. The goal of initial therapy in CH is to minimize neonatal central nervous system exposure to hypothyroidism by normalizing thyroid function, as reflected by T4 and TSH levels, as rapidly as possible. Iodine deficiency is the most important cause of CH worldwide. Iodine is essential for thyroid hormone synthesis and is present in soil, water and air. Prevention of iodine deficiency can be by iodized salt, iodized oil, iodized bread or iodine tablets.

Clinical Effectiveness and Cost-Effectiveness of the Use of the Thyroxine/Thyroxine-Binding Globulin Ratio to Detect Congenital Hypothyroidism of Thyroidal and Central Origin in a Neonatal Screening Program

Since the introduction of screening for congenital hypothyroidism (CH) in 1974, the optimal laboratory strategy has been the subject of debate. To assess the clinical effectiveness and cost-effectiveness of various types of thyroxine (T(4))-based strategies to screen for CH. In the Netherlands, since January 1, 1995, a primary T(4) determination with supplemental thyroid-stimulating hormone (TSH) and T(4)-binding globulin (TBG) measurements has been used. Results were calculated from cumulative findings for 1181079 children screened between January 1, 1995, and December 31, 2000. Rates of detection of patients with CH of thyroidal origin (CH-T) or CH of central origin (CH-C), false-positive rates, laboratory costs, and costs of initial diagnostic evaluations. All known infants (n = 393) with CH-T and 92% (n = 66) of infants with CH-C were detected on the basis of low T(4) levels, TSH elevation, and/or low T(4)/TBG ratios. If the decision to refer had been based solely on TSH elevation, then 94% of patients with CH-T and none of the patients with CH-C would have been detected. If low T(4) levels (<or=-3.0 SD) and TSH elevation had been used as the criteria for referral, then the rates of detection would have been 96% for CH-T and 31% for CH-C. The false-positive rates for the 3 approaches were 0.5, 3.3, and 4.7 cases per case detected, respectively. The introduction of the T(4)/TBG ratio into a program using a primary T(4) with supplemental TSH approach generates an extra cost of 11206 dollars per additional case detected. The average costs to detect 1 patient are comparable for the 3 approaches. In addition, our data revealed a substantially greater prevalence of CH-C than reported previously (1 case per 16404 children, compared with earlier estimates of 1 case per 26000 infants to 1 case per 29000 infants). The T(4) plus TSH plus TBG approach is a recommendable strategy for neonatal CH screening. It offers outstanding detection of patients with CH-C, in addition to those with CH-T, with acceptable costs.

Neonatal Detection of Congenital Hypothyroidism of Central Origin

Due to the high frequency of concurrent pituitary hormone deficiencies, congenital hypothyroidism (CH) of central origin (CH-C) is a life-threatening disorder. Yet only a minority of these patients are detected by neonatal CH screening programs worldwide. We conducted a prospective multicenter study involving a 2-yr cohort of neonatally diagnosed CH-C patients to determine whether a T(4)-TSH-based neonatal CH screening protocol extended with T(4) binding globulin determinations improves early detection of CH-C and to assess the extent of pituitary hormone deficiency among the identified CH-C patients. In all infants with screening results indicative of CH-C, the functional integrity of the hypothalamo-hypophyseal system was investigated by dynamic tests; the anatomical integrity was investigated by magnetic resonance imaging. Initial test results were evaluated after 5 yr of follow-up. Among 385,000 infants screened over the 2-yr period, 19 cases of permanent CH-C were detected (prevalence, 1:20,263; 95% confidence interval, 1:12,976 to 1:33,654), representing 13.5% of all detected cases of permanent CH. The majority (78%) had multiple pituitary hormone deficiency, whereas 53% had pituitary malformations on magnetic resonance imaging. We conclude that infants with CH-C can very well be detected by neonatal screening. The estimated prevalence and the severity of pituitary dysfunction of this treatable disorder call for explicit attention for this entity of CH in neonatal screening programs worldwide.

A case with hyperthyroidism who had been treated with thyroid hormone because of congenital hypothyroidism.

We encountered a case with hyperthyroidism at the age of 14 who had been diagnosed with congenital hypothyroidism (CH) and had received thyroid hormone replacement therapy. At the age of 16 d, the patient was referred to our hospital because of positive results at neonatal screening for CH. Serum level of TSH was 91.0 μU/ml and serum level of T4 was 6.9 μg/dl. The patient was diagnosed as having hypothyroidism, and hormone replacement therapy was started. Thereafter the dosage of thyroid hormone was adjusted and increased gradually as he grew to a maximum dose of 110 μg/day at the age of 11. Until the age of 13, the patient’s serum levels of TSH were within the normal range; then, at the age of 13 yr and 4 mo, his serum level of TSH dropped to a level below the detectable range. The dosage of administered thyroid hormone was tapered off and eventually eliminated at the age of 14. A thyroid scan and a radioactive iodine uptake test demonstrated a diffuse goiter with homogeneous uptake of radioactive iodine; the uptake rate was 60% at 24 h, and the serum level of TSH receptor antibody (TRAb) was 62.5% at that time. Administration of an antithyroid drug was started after confirmation that our patient had developed hyperthyroidism. There have been no case reports similar to our case.

Neonatal screening for congenital hypothyroidism in Hessen, Germany: efficiency of the screening program and school achievement of 129 children at an age of 8–12 years

Status and school achievement of 129 children born in Hessen between 1988 and 1992 and notified by a repeatedly elevated concentration of TSH in neonatal screening were evaluated. Interviews of mothers, teachers and pediatricians were used to score the development and educational achievements, respectively. A total of 298,175 newborns were screened and the incidence of permanent congenital hypothyroidism (PCH) was 1: 3,313 (n = 90). The female/male ratio was 1.37:1. In the 69 PCH cases with complete data, athyreosis (52%), hypoplasia (32%), dyshormogenesis (9%) and ectopia (7%) were identified as etiologies. The mean age at start of therapy decreases from day 15 in 1988 to day 9 in 1992; however, 27% of PCH children showed reduced psychomotor development as scored by their pediatrician and 11% attended a special school for educationally subnormal children. Approximately 25% of the children had lower educational achievements irrespective of the school type. Our finding of a relatively high percentage of PCH children with subnormal development points to a failure in disease management. A follow-up program including repeated serum TSH monitoring and yearly examinations by pediatric endocrinologists and supervision by the regional screening center is necessary to ensure the long-term efficacy of neonatal screening for congenital hypothyroidism.

Thyroid Function of Newborns and Exposure to Chlorine Dioxide By-products

In this study, the authors compared thyroid function of newborns from 11 municipalities where drinking water was disinfected by chlorine dioxide (ClO2) with that of newborns from 15 municipalities using chlorine disinfection. They estimated the mean neonatal blood thyroid stimulating hormone (TSH) levels and proportion of congenital hypothyroidism cases using the results of the Quebec neonatal screening for congenital hypothyroidism for 32,978 newborns over the period 1993-1999. There was no significant increase in the TSH level and no excess of congenital hypothyroidism when all newborns exposed to ClO2 were considered. However, for newborns with low birth weight, mean TSH level was significantly higher among those exposed to ClO2 than for those in the reference group.