Screening for congenital hypothyroidism
Trends in Endocrinology and MetabolismPublished 1 July 1991
Delbert A. Fisher
Citations36
SJR quartileQ1
SJR score3.48
SNIP2.69
Generate an AI Snapshot to get a quick, structured summary of this paper.
Study Snapshot
ObjectiveStudy objective
MethodsResearch methodology
PopulationPopulation studied
Sample sizeSample sizes
OutcomesStudy outcomes here
ResultsStudy results comes here
LimitationsResearch study limitations comes here
A concise AI-generated summary of the paper will appear here once you click Generate AI Snapshot.
Abstract
Population screening for congenital hypothyroidism was introduced in the early 1970s and now is routine in most of the industrialized world. Such screening has facilitated the characterization and refined the nosology of a spectrum of thyroid disorders in the neonatal period. Moreover, newborn screening has fulfilled the promise of minimizing the mental retardation otherwise common in infants with congenital hypothyroidism. Careful management of detected infants is essential, and physicians must remember that some infants, perhaps 10% of the total, may escape detection in screening programs. A high index of suspicion is necessary to assure early clinical detection and treatment of these infants.
Keywords
MedicineBiochemistry, Genetics and Molecular Biology
Elsevier eBooksOntogenesis of Hypothalamic-Pituitary-Thyroid Function and Metabolism in Man, Sheep, and Rat
379 Citations1977Delbert A. Fisher, Jean H. Dussault +2 more
The chapter illustrates Triiodothyronine (T3) production rates in rats at different times after birth, and the general pattern of ontogenesis of the hypothalamic-pituitarythyroid system in the human, sheep, and rat species is similar.
The Journal of PediatricsScreening for congenital hypothyroidism: Results of screening one million North American infants
374 Citations1979Delbert A. Fisher, Jean H. Dussault +7 more
Pilot programs for screening of newborn infants for congenital hypothyroidism began in North America in 1972 and preliminary evidence from Quebec suggests that infants treated in the program have normal developmental testing scores at 18 months of age.
The Journal of PediatricsPreliminary report on a mass screening program for neonatal hypothyroidism
361 Citations1975Jean H. Dussault, Pierre A. Coulombe +4 more
The frequency of congenital hypothyroidism is about one in 7,000 births and the immunoassay is effective in detecting thyroid hormone abnormalities with an acceptable percentage of false positive measurements; no false negative results have occurred.
The Journal of Clinical Endocrinology & MetabolismRadioimmunoassay of Thyrotropin in Human Serum
343 Citations1965William D. Odell, John F. Wilber +1 more
A radioimmunoassay capable of measuring thyrotropin (TSH) in human serum has been developed and partial cross-reactions of human TSH with human chorionic gonadotropin (HCG) and human luteinizing hormone (HLH) were demonstrated.
The Journal of PediatricsImproved prognosis in congenital bypothyroidism treated before age three months
326 Citations1972Alan H. Klein, Stephanie Meltzer +1 more
The relationship between age at beginning therapy and subsequent intelligence quotient was studied in patients with congenital hypothyroidism, and patients treated before three months of age had a significantly higher average I.Q. than those treated after three months.
Elsevier eBooksPathways of Metabolism of Thyroid Hormones
240 Citations1978INDER J. CHOPRA, David H. Solomon +4 more
This chapter explores the metabolic pathways of thyroid hormones, suggesting that inhibition of conversion of T4 to T3 may be a defense reaction of the body in various situations where catabolism is overactive and homeostasis requires a contrary force.
The Journal of PediatricsIntellectual outcome in children with fetal hypothyroidism
195 Citations1987Joanne Rovet, Rodney Ehrlich +1 more
Although most children with athyrosis were found in the delayed group, the groups did not differ in birth weight, hormone levels, or family background, and there were no differences in behavior or temperamental characteristics.
Archives of Disease in ChildhoodCretinism: Early diagnosis its relation to mental prognosis
143 Citations1971Salvatore Raiti, G. H. Newns
A total of 141 cases of hypothyroidism diagnosed within the first two years has been reviewed, finding that the best mental development was achieved when treatment was begun inside the first three months of life.
The Journal of PediatricsIncreased risk of primary hypothyroidism in preterm infants
127 Citations1984François Delange, Anne Dalhem +6 more
The results indicate that the effects of relative iodine deficiency on thyroid function are superimposed on and mask the physiologic state of tertiary hypothyroidism in prematurity in Belgium.
The Journal of Clinical Endocrinology & MetabolismManagement of Congenital Hypothyroidism
121 Citations1991Delbert A. Fisher
The etiology and optimal management of apnea of infancy is not clear and the actual relationship between apnea and the sudden infant death syndrome has not been established, so continued research in these areas is essential.
PEDIATRICSEarly Treatment of Congenital Hypothyroidism
114 Citations1989D A Fisher, Barbara Foley
There have been reported correlations between lower IQ values and biologic parameters of the hypothyroid state in the neonatal period among several reported studies, and it is not yet clear whether early adequate treatment will reverse all of the effects of congenital Hypothyroidism.
PEDIATRICSScreening for Congenital Hypothyroidism With Specimen Collection at Two Time Periods: Results of the Northwest Regional Screening Program
103 Citations1985Stephen LaFranchi, Cheryl E. Hanna +4 more
These infants appear to have milder hypothyroidism due to a later age of onset or slower evolution of thyroid failure, and the NWRSP found it cost-effective to obtain a routine second specimen.
Pediatric ResearchUseful Parameters To Predict the Eventual Mental Outcome of Hypothyroid Children
98 Citations1988Jacqueline Glorieux, Manon Desjardins +3 more
The Quebec Network for Genetic Medicine has followed the development of some 100 hypothyroid children treated by 1 month of age and evaluated at 18 months, 3 and 5 yr and the Griffiths Mental Development Scales, then at 7 and 9 yr with the Wechsler Intelligence Scale for Children Revised, showing that the children as a group reach scores within the normal range of the tests.
The LancetEVALUATION OF THREE THYROID-FUNCTION SCREENING TESTS FOR DETECTING NEONATAL HYPOTHYROIDISM
96 Citations1976P. G. Walfish
To avoid the impracticably high recallrate and false-positive incidence resulting from an initial T4 screening test, and to reduce the estimated follow-up recall to less than 0-2% of the screened infant population, it is recommended that infants with low T4 be selected for a supplementary T.S.H. screening test.
PEDIATRICSSignificance of Transient Postnatal Hypothyroxinemia in Premature Infants With and Without Respiratory Distress Syndrome
89 Citations1981Anthony Hadeed, Lyal D. Asay +2 more
The normal intellectual development at 12 months of age and the spontaneous increase in T 4 levels that occurs over the first six weeks of life suggest that the low T4 levels in these infants reflect a benign relative delay in maturation of hypothalamic-pituitary-thyroid control.
Research in Congenital Hypothyroidism
89 Citations1989François Delange, Delbert A. Fisher +1 more
This work focuses on the treatment strategy and long term follow-up of patients with congenital hypothyroidism diagnosed by screening for high thyroxine at birth and the problems in the management of Patients with infantile hypothyroxine.
Pediatric Clinics of North AmericaEffectiveness of Newborn Screening Programs For Congenital Hypothyroidism: Prevalence of Missed Cases
75 Citations1987Delbert A. Fisher
It is clear that a significant number of affected infants can be missed in the best of screening programs, and Physicians must be aware of the possibility and alert to early clinical evidence of congenital hypothyroidism.
The Journal of PediatricsTransient hypothyroidism in the newborn infant
73 Citations1978François Delange, J Dodion +5 more
Six infants in whom thyroid insufficiency was detected in the early days of life and disappeared spontaneously after a few weeks are discussed.
The Journal of PediatricsTSH measurements from blood spots on filter paper: A confirmatory screening test for neonatal hypothyroidism
69 Citations1976Jean H. Dussault, Albert F. Parlow +3 more
A sensitive radioimmunoassay for the measurement of TSH in the eluate of blood spotted on filter paper has been developed and has permitted rapid confirmation of 10 cases of neonatal hypothyroidism.
Pediatric ResearchThyroxine (T4) Immunoassay Using Filter Paper Blood Samples for Screening of Neonates for Hypothyroidism
68 Citations1975P. Reed Larsen, Kathy D. Broskin
The method should be useful for screening neonates (and older infants), since it can be adapted for use with the punch-index machine for automated processing, no prior extraction of T4, from the dot is required before quantitation, and the small size of the sample allows repeated tests of suspicious results.
BMJPopulation screening for congenital hypothyroidism.
66 Citations1980J A Hulse, David Grant +6 more
The results suggest that the prognosis for most of these babies is likely to be improved by early diagnosis, and the introduction of national screening should be delayed no longer.
Endocrine ReviewsInherited Disorders of Thyroid Metabolism*
60 Citations1983E. G. Lever, Geraldo Medeiros‐Neto +1 more
This survey indicates that further research is needed to elucidate the precise molecular mechanisms of the working of the iodide pump, the oxidation and iodination and coupling mechanisms.
The Journal of PediatricsModification of a screening program for neonatal hypothyroidism
60 Citations1978Jean H. Dussault, J Morissette +3 more
From the experience in the screening of 212,000 newborn infants, a flow chart for processing T4 and TSH measurements obtained from initial filter paper blood spots is devised, which indicates that about 1.84% require a spot TSH determination, and 1.1% require repeat determinations of T4.
The Journal of PediatricsNeonatal thyroid function in congenital hypothyroidism
59 Citations1976Alan H. Klein, Thomas P. Foley +3 more
There was a significant negative correlation between the T3 value and the severity of thyroprevia as reflected in the TSH levels and the number of clinical features present, which provides further rationale for the widespread institution of newborn screening programs for congenital hypothyroidism.
Archives of Disease in ChildhoodSerum thyrotrophin determination on day 5 of life as screening procedure for congenital hypothyroidism.
56 Citations1977François Delange, M. Camus +3 more
In 327 newborns cord blood thyroxine (T4) was 11.8 +/- 0.4 mug/100 ml (SEM) (151.9 +/- 5.1 nmol/l), and serum thyrotrophin (TSH) 6.7+/-1.0 muU/ml (TSH), Variability was marked for both T4 and TSH.
The Journal of Clinical Endocrinology & MetabolismGENETIC AND ENVIRONMENTAL FACTORS IN CRETINISM: A CLASSIFICATION*
50 Citations1956John B. Stanbury, A Querido
A diagnosis of cretinism is not incompatible with the finding of a functioning thyroid, but certain characteristic developmental defects must be present before the diagnosis can be made.
The Journal of Clinical Endocrinology & MetabolismIMMUNOASSAY OF HUMAN TSH USING DRIED BLOOD SAMPLES1
48 Citations1976P. Reed Larsen, Alta Merker +1 more
A sensitive, semi-quantitative radioimmunoassay method to screen for elevations of TSH concentration in blood is described and TSH in dried cord and newborn blood from 4 infants with congenital hypothyroidism was clearly higher than in normal infants.
Archives of Disease in ChildhoodTransient infantile hyperthyrotrophinaemia.
47 Citations1989Kazunori Miki, Osamu Nose +3 more
It is concluded that 'transient infantile hyperthyrotrophinaemia' is a syndrome, which differs from typical transient neonatal hypothyroidism, and that careful follow up is necessary because some children show signs of mild pituitary-thyroid dysfunction in later childhood.
Archives of Disease in ChildhoodResults of a regional cord blood screening programme for detecting neonatal hypothyroidism.
44 Citations1979Paul G. Walfish, Jody Ginsberg +2 more
The incidence of abnormalities detected in this Cord blood screening programme was comparable with that reported by others using neonatal dried blood screening methods, indicating that cord blood screening can be effective provided the appropriate recall criteria and transport conditions are used.
PubMedHead circumference, height, bone age and weight in 103 children with congenital hypothyroidism before and during thyroid hormone replacement.
42 Citations1985H Bucher, A. Prader +1 more
Thyroid hormone therapy resulted in a normalization of head growth when treatment was initiated early, and in a further increase when treatment is started late, shows that congenital hypothyroidism is associated with increased head circumference, either absolutely or in relation to stature.
JAMAScreening for congenital hypothyroidism. Results in the newborn population of New England
36 Citations1978M. L. Mitchell
The Journal of Clinical Endocrinology & MetabolismPeripheral Resistance to Thyroid Hormone in an Infant*
36 Citations1981Paul B. Kaplowitz, A. Joseph D’Ercole +1 more
Trends in Endocrinology and MetabolismThyroid hormone resistance syndromes
33 Citations1991Stephen J. Usala, Bruce D. Weintraub
The gene for generalized thyroid hormone resistance has been mapped to the c- erb Aβ thyroid hormone receptor on chromosome 3 in multiple kindreds and different mutations have been identified in the triiodothyronine (T 3 )-binding domain of c- erase Aβ and result in variable changes in T 3 binding affinity.
European Journal of EndocrinologySixty children with congenital hypothyroidism detected by neonatal thyroid: Mental development at 1,4, and 7 years: a longitudinal study
30 Citations1986R Illig, R. H. Largo +6 more
There are no significant DQ/IQ differences neither between athyroidism and ectopic thyroid glands, nor between prenatal bone age and normal skeletal maturation at diagnosis, and it is assumed that the favourable results in children with C.H. may be ascribed to the early onset of thyroid hormone replacement and the strictly controlled compliance.
American Journal of Diseases of ChildrenMENTAL DEVELOPMENT OF CONGENITALLY HYPOTHYROID CHILDREN
30 Citations1944Hilde Bruch
The purpose of this paper is to examine the mental development of children with congenital hypothyroidism and to evaluate as objectively and quantitatively as possible the relationship of mental development to physical progress.
Archives of Disease in ChildhoodEarly detection of congenital hypothyroidism.
21 Citations1977R MacFaul, David Grant
All available evidence indicates that early recognition and treatment of congenital hypothyroidism will reduce the incidence and severity of later handicap, all the published series show wide overlap of intelligence in children treated early and late, and even in cases treated before 6 weeks the proportion with an IQ above 90 is less than expected.
DMW - Deutsche Medizinische WochenschriftHypothyreosen im Kindesalter
18 Citations1953W Horst, G.-A. von Harnack
DMW - Deutsche Medizinische WochenschriftHypothyreosen im Kindesalter
15 Citations1953W Horst, G.-A. von Harnack
Endocrine ResearchThe Syndrome of Generalized Resistance to Thyroid Hormone (Grth)
13 Citations1989Samuel Refetoff
Treatment Strategy and Long Term Follow Up of Congenital Hypothyroidism
13 Citations1989Guy Van Vliet, Th. Barboni +3 more
Whether the physical and neuropsychological development of children diagnosed as having congenital hypothyroidism by neonatal screening is entirely normal remains controversial.
Pediatric ResearchAN EIGHT-YEAR STUDY OF THE MENTAL AND PSYCHOMOTOR DEVELOPMENT OF HYPOTHYROID CHILDREN DETECTED BY NEONATAL SCREENING
3 Citations1988Bernadette Rogé, F Alexandre +2 more
There was a good correlation between the DQ at 6 months, 2 and 3 years of age, and the epiphysis area at the time the condition was detected, whereas there was no difference between athyrosis and ectopic thyroid cases.