Guidelines for neonatal screening programs for congenital hypothyroidism. European Society for Pediatric Endocrinology Working Group on Congenital Hypothyroidism.
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Biomedical subjects
Publications and source records attributed to M Klett.
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The environmental contamination by dioxins and furans (PCDD/PCDF) of a local area in southwest Germany due to pyrolytic processes led to a survey of health consequences in the exposed population. 2,3,7,8-TCDD (8000 ng/kg TE (ppt)) was found in the soil and up to 585000 ng/kg TE in attic dust in private homes. In a randomized study group of definitively exposed persons, a neuropsychological test battery was applied and its value as a diagnostic tool investigated. A total group of 19 persons participated in a standard neuropsychological examination including common procedures to evaluate mnestic and attentional performance and psychomotor speed (e.g., WAIS, WMS-R, TMT, and symptom and mood checklists). The range of PCDD/PCDF between 16 and 80 (mean 31) ppt did not vary substantially from blood fat values in a national sample. Results of neuropsychological testing showed only slight deviations from the expected range. Nevertheless, in a high-level exposure group, a reduction of verbal conceptualization, mnestic organization of verbal and visual stimuli, and psychomotor slowing was found. Among other correlations visual exploration speed (TMT) was most directly related to TE. Affective symptoms (such as irritability and emotional instability) were also related to exposure. Results indicate that standard neuropsychological testing can be recommended for the routine evaluation of chronic dioxin exposure.
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To reduce coronary heart disease risk factors in children an intervention study among 9-year old students and their 40-year old parents was implemented. 348 subjects were in grade 3 at six elementary schools. All students and some 50% of their parents participated in a comprehensive health instruction and nutrition education program. In addition, an integrated school-based clinic offered facilities to take part in a cholesterol screening activity attracting 89% of students and 50% of parents. As a result, 19% of the students and 51% of the parents whose cholesterol levels exceeded the WHO recommendation of 200 mg/dl were counselled for that reason. Besides that, natural opportunities to lose weight and to reduce fat consumption were trained in an integrated approach. Health knowledge was tested and proved to have increased by 50% at the end of the activities. The programme may reduce chronic disease risk by increased efforts to improve repetition and implementation of health activities.
Although newborn screening for congenital hypothyroidism was introduced into Europe as late as 1975, its high acceptance rate has quickly led to its wide use in most European countries. One would expect early diagnosis with early onset of treatment to result in normalization of previously impaired mental development. One may conclude from results obtained in 790 children up to the age of seven years that normal mental development is assured if levothyroxine is administered within the first four weeks of life. This also applies to children with athyroidism: their mental development is not different from that of children with an ectopic thyroid.
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In 42 families from Dortmund iodine intake by dairy products, sea-fish and iodized salt used at home was measured. Urinary excretion of iodine in 24 h-urine samples and spontaneous samples before and after the use of iodized salt was estimated in each person. TSH levels were measured in 71 persons before and after the introduction of iodized salt. Mean daily intake of iodine by milk and sea-fish was calculated as 53 micrograms/d in adults and adolescents (greater than 12 years, n = 95), 57 micrograms/d in pupils (greater than 6- less than 12 years, n = 36) and 40 micrograms/d in small children (less than 6 years, n = 20). The median of iodine excretion in 24 h-urine samples before the use of iodized salt (after 6 months of use) was 61 micrograms/d (77 micrograms/d) in men, 30 micrograms/d (49 micrograms/d) in boys aged more than 12 years, 39 micrograms/d (49 micrograms/d) in women and girls aged more than 12 years, 21 micrograms/d (33 micrograms/d) in pupils and 21 micrograms/d (28 micrograms/d) in small children. There was a corresponding increase of iodine excretion in spontaneous urine samples. These data agree with our estimation of an additional intake of about 20 micrograms iodine/d. In 11 children and adolescents with stage I goiter serum levels of TSH tended to be lower after using iodized salt for 6 months. An adequate additional intake of iodine of about 100 micrograms/d in German adults can not be met by the exclusive use of iodized salt (20 micrograms/g) at home, as the intake of iodized salt is far below the 5 g/day necessary to meet this goal.
In order to evaluate further the possibility that transient hypothyroidism and hyperthyrotropinemia in newborn infants could result from a state of relative iodine deficiency, the urinary concentration of iodine, used as an index of the dietary intake of iodine was determined in casual urine samples collected in 1,076 full-term infants aged 3-6 days in 16 cities in 10 different European countries and in Toronto, Canada. In addition, the results obtained by programs of systematic neonatal screening for congenital hypothyroidism in the same areas were compared. There were marked regional differences in iodine nutrition during the neonatal period in Europe (median urinary iodine: 16.2 micrograms/dl in Rotterdam, the Netherlands, and 1.1 micrograms/dl in Freiburg, FRG. A low iodine supply in newborn populations was accompanied by, and probably explained, an elevated frequency of transient disorders of thyroid function in young infants. Iodine prophylaxis is urgently needed in some European countries not only for the prevention of goiter, but mostly for the prevention of impairment of thyroid function during the critical period of brain development.
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Screening for neonatal hypothyroidism was introduced in 1979 in nearly all West German provinces on a regional basis as an additional preventive investigation. In February 1980 provincial control was replaced by uniform financing of screening for the whole country by public sick funds. Eleven out of 14 regionally organised screening laboratories took part in an enquiry into the incidence, clinical symptoms and causes of inborn hypothyroidism. Among 427 430 newborn infants tested 137 children with inborn hypothyroidism were detected in 1979/80. The incidence of 1:3100 corresponds to European figures. On average treatment could be instigated by the 12th day of life. Clinical symptoms of hypothyroid newborns differed in part markedly from classical signs of hypothyroidism. About 30% of the mothers had goitre. The cost-benefit relationship of newborn hypothyroidism screening is 1:10.
Evaluating plasma levels of cortisol and corticosterone after ACTH-stimulation, and the urinary metabolites tetrahydrocortisone and tetrahydrocortisol in asthmatic children it could be demonstrated, that in most cases there was no suppression of adrenal function following treatment over 6 to 18 months with a daily dose of 200 to 300 microgram beclomethasone dipropionate. Since in a few patients suppression was found, an ACTH stimulation after a six months treatment is recommended.
In a regional study 2062 newborns were screened for congenital hypothyroidism by determination of TSH in plasma or dried blood spots on the fifth day of life. Three newborns with congenital hypothyroidism were detected. All of them showed high TSH-levels between 462 and 2192 micromicron/ml. One newborn with a congenital goiter had a TSH-level of 143 micromicron/ml. Additionally, in a follow-up study of 50 newborns with jaundice TSH, T4, T3 and reverse T3 during the first 120 h of life were measured. Efficiency of the different methods concerning their applicability to mass screening is discussed.
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During the last years increased PCDD/PCDF-levels were found in soil, dust and vegetables in a living area close to a metal reclamation plant in Southern Germany. 450 volunteers participated in a clinical and laboratory trial. In a randomised group of 22 persons PCDD/PCDF concentrations have been investigated from blood samples. The range of PCDD/PCDF between 16-80 (mean 31) did not vary substantially from values in non-exposed national samples. Results of clinical history and clinical and laboratory testing did not correlate with emission, time of exposure or PCDD/PCDF concentrations of blood samples. It is suggested that PCDD/PCDF of pyrolytic origin may be incorporated to a lesser extent in humans.