2000, Number 4
<< Back Next >>
Rev Biomed 2000; 11 (4)
Congenital hypothyroidism: the history and utility of screening
Marrero-González N, Rodríguez-Fernández C
Language: Spanish
References: 44
Page: 283-292
PDF size: 45.33 Kb.
ABSTRACT
Congenital hypothyroidism (CH) is a disease that has been known since the 15th century when people suffering from this condition were called cretins. It´s caused by the absence of the anatomical or functional thyroid gland which provokes a deficiency in the production of thyroid hormones. These hormones are indispensable for the correction of physical and mental development from the first moments of life. This illness is the most frequent avoidable cause of mental retard in children. CH is included in neonatal screening programs of many states and countries because of the following reasons: 1.- The disorder brings about irreversible neurological abnormalities. 2.- The clinical detection in neonates is impossible because its symptoms are subjective and scarce. 3.-The disorder can be effectively treated with a simple treatment, oral thyroxine supplementation. 4.- The incidence of the disorder is 1:4000 newborns. 5.- Screening methods available are simple, rapid, reliable and economical. 6.- The cost-benefit ratio becomes positive for the society.
REFERENCES
Dussault JA. The impact of sistematic screning for congenital hypothyroidism.New Horizons in Neonatal Screening. Procedings of the 9th Internacional Neonatal Screening Symposium, and the 2nd Meeting of the Internacional Society for Neonatal Screening. Lille, France; 1993. p. 123-4.
Fisher DA. Effectiveness of newborn screening programs for congenital hypothyroidism: Prevalence of missed cases. Pediat Adol Endocrinol 1987; 34:881-90.
Fisher DA. Screening for congenital hypothyroidism. TEM 1991; 2:129-33.
Toublanc JE. World wide inquiry on incidence of congenital hypothyroidism. In: Farriaux JP, Dhondt JL, editors. New Horizons in Neonatal Screening. Procedings of the 9th Internacional Neonatal Screening Symposium, and the 2nd Meeting of the Internacional Society for Neonatal Screening. 1993 sep 13-17; Lille, France; Lile CEDEX; 1993. p. 149-50.
Ficher DA. Second international conference on neonatal thyroid screening: progress report. J Pediatr 1983; 102: 653-4.
Tourblanc JE. Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world. Horm Res 1992; 38: 230-5.
Virtanen M, Mäenpää J, Pikkarainen J, Pitkänen L, Perheentupa J. Aetiology of congenital hypothyroidism in Finland. Acta Paediatr Scand 1989; 78: 67-73.
Marrero N, González Y, Frómeta A, Lechuga MF. Estabilidade de T4 (T4) em manchas de sangue seco sobre papel de filtro. Impacto na pesquisa neonatal de hipotireoidismo congênito. News Lab 1997; 26:50-60.
Klein AH, Fisher DA. Thyroid physiology in full-term and premature infants. In: Dekker M, editor. Basic and Clinical Endocrinology. New York: Marcel Dekker Inc; 1983. p. 127-35.
Kaplan MM. Metabolism of thyroid hormones. In: Dekker M, editor. Basic and Clinical Endocrinology. New York: Marcel Dekker Inc; 1983. p. 11-35.
Fisher DA. The hypothyroxinemia of prematurity [editorial]. J Clin Endocrinol Metab 1997; 82:1701-3.
Alonso-Fernández JR. Cobertura de los programas de tría neonatal en España y estrategias de toma de muestra. En: Motger Catá J, editor. Prevención de enfermedades metabólicas congénitas. Barcelona: Ediciones el recién nacido; 1993(6).
Naruse H, Watanabe N, Harada S, Ichihara N, Morikawa M, Mochizuki T, et al. Necessity of low cut off level of TSH in neonatal hypothyroid screening. In: Levy HL, Hermos RJ, Grady GF, editors. Proceedings of the Third Meeting of the International Society for Neonatal Screening; 1996 oct 20-23; Boston, EUA: IKON/MAP; 1996. p. 228-31.
Delange F, Dalhem A, Bourdaux P, Lagasse R, Glinoer D, Fisher DA, et al. Increased risk of primary hypothyroidism in preterm infants. J Pediatr 1984; 105:462-9.
Brown A, Hennessey MJ. Clinical significance of mildly elevated thyrotropin levels with normal thyroxine levels. Southern Med J 1989; 82: 681-5.
Pineda G, Becker P, Atria A, Aguayo J. Anticuerpos antimicrosomales tiroideos en patología tiroidea: su valor como marcador antigénico. Rev Méd Chile 1989; 117:367-72.
Yhong Wang. Simultaneous determination of thyrotropin (TSH) and thyroxin (T4) in blood spots on filter paper for hypothyroidism- screenig in the newborn. In: Webster D, editor. Neonatal Screening in the nineties. Proceeding of the 8th Internacional Neonatal Screening Symposium; 1991 nov 11-15; New South Wales, Australia: Fairmont resort, Leura Blue Mountains, NSW; 1991. p. 67-8.
Coelho Neto JR, Shimizu MSO, Loghin-Grosso NS, Carvalho TN, Schmidt BJ. Congenital hypothyroidism: T4 screening x TSH sequential to T4 (p10) screening – A comparative study. In: Levy HL, Hermos RJ, Grady GF, editors. Proceedings of the Third Meeting of the International Society for Neonatal Screening; 1996 oct 20-23 Boston, EUA:IKON/MAP; 1996. p. 263-4.
Matsumura LK, Kunii IS, Furuzawa GK, Faria AM, Almeida MF, Vieira JGH, et al. Cord TSH vs heel T4 blood screening for neonatal hypothyroidism. In: Levy HL, Hermos RJ, Grady GF, editors. Proceedings of the Third Meeting of the International Society for Neonatal Screening; 1996 oct 20-23 Boston, EUA:IKON/MAP; 1996. p. 273-4.
Bluett MK, Reiter EO, Duckett GE, Root AW. Simultaneos radioimmunoassay of thyrotropin and thyroxine in human serum. Clin Chem 1977; 23:1644-7.
Prieto L, Gruñeiro de Papendieck L, Chiesa A, Bergadá C. Screening for congenital hypothyroidism (CH): experience in cord blood. In: Levy HL, Hermos RJ, Grady GF, editors. Proceedings of the Third Meeting of the International Society for Neonatal Screening; 1996 oct 20-23 Boston, EUA: IKON/MAP; 1996. p. 271-2.
Robaina R, Güell R, Fernández-Yero JL, Lechuga MF, Alvarez MA, Solis RL, et al. The Cuban national program for the detection of congenital hypothyroidism after 10 years. In: Levy HL, Hermos RJ, Grady GF, editors. Proceedings of the Third Meeting of the International Society for Neonatal Screening; 1996 oct 20-23 Boston, EUA: IKON/MAP; 1996. p. 275-6.
Fuse Y, Wakae E, Nemoto Y, Uga N, Tanaka M, Maeda M, et al. Influence of perinatal factors and samplig methods on TSH and thyroid hormone levels in cord blood. Endocrinol Japon 1991; 38:297-302.
Dussault JH, Grenier A, Mitchell ML. Filter paper blood values of TSH and T4 during the first 24 hours of life. In: Levy HL, Hermos RJ, Grady GF, editors. Proceedings of the Third Meeting of the International Society for Neonatal Screening; 1996 oct 20-23 Boston, EUA: IKON/MAP; 1996. p. 232-3.
Takahashi M, Kitamura T, Imamura H, Miura M, Morijiri Y. Pitfalls of neonatal screening for congenital hypothyroidism. In: Levy HL, Hermos RJ, Grady GF, editors. Proceedings of the Third Meeting of the International Society for Neonatal Screening; 1996 oct 20-23 Boston, EUA: IKON/MAP; 1996. p. 261-2.
Franklin RC, Purdie Gl, O’ Grady CM. Neonatal thyroid function: prematurity, prenatal steroids, and respiratory distress syndrome. Arch Dis Child 1986; 61:589-92.
Hadeed AJ, Asay LD, Klein AH, Fisher DA. Significance of transient postnatal hypothyroxinemia in premature infants with and without respiratory distress syndrome. Pediatrics 1981; 68:494-8.
Larsson A, Ljunggren JG, Ekman K, Nilsson A, Olin P. Screening for congenital hypothyroidism. Acta Paediatric Scand 1981; 70: 141-6.
Larsson A, Ljunggren JG, Ekman K, Nilsson A, Olin P, Bodegard G. Screening for congenital hypothyroidism. Acta Paediatric Scand 1981; 70: 147-53.
Dassault JH. Neonatal screening for congenital hypothyroidism. Clin Lab Med 1993; 13: 645-52.
Elvers LH, Loeber JG, Verkerk PH. Thyroxine-binding globulin determination as an extra parameter in congenital hypothyroidism screening. In: Levy HL, Hermos RJ, Grady GF, editors. Proceedings of the Third Meeting of the International Society for Neonatal Screening; 1996 oct 20-23 Boston, EUA: IKON/MAP; 1996. p. 250-2.
Takashima S, Noruma N, Tanaka H, Itoh Y, Miki K, Harada T. Congenital hypothyroidism: assessment with ultrasound. Am J Neuroradiol 1995; 16: 1117-23.
Ueda D, Mitamura R, Susuki N, Yano K, Okuno A. Sonographic imaging of the thyroid gland in congenital hypothyroidism. Pediatr Radiol 1992; 22:102-5.
Czernichow P, Schulumberger M, Pomarede R, Fragu P. Plasma Thyroglobulin measurements help determine the type of thyroid defect in congenital hypothyroidism. J Clin Endocrinol Metab 1983; 56: 242-5.
Dammacco F, Dammacco A, Cavallo T, Sansonna S, Bafundi N, Torelli C, et al. Serum thyroglobulin and thyroid ultrasound studies in infants with congenital hypothyroidism. J Pediatr 1985; 106:451-3.
Abramowicz MJ, Targorvnik HM, Varela V, Cochaux P, Krawiec L, Pisarev MA, et al. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. J Clin Invest 1992; 90:1200-4.
Grüters A, Köhler B, Wolf A, Söling A, de Vijlder L, Krude H, et al. Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism. Exp Clin Endicrinol Diabetes 1996; 104 (suppl 4): 121-3.
Meller J, Zappel H, Conrad M, Roth C, Emrich D, Becker W. Diagnostic value de 123Iodine scintigraphy and perchlorate discharge prueba in the diagnosis of congenital hypothyroidism. Exp Clin Endocrinol Diabetes 1997; 105 (suppl 4): 24-7.
Baserga M, Marotta R, Giancotti L, Guandalani S, Cecere G, Russo M, et al. Neonatal screening in Calabria for Hypothyroidism: neuropsychomotor follow-up. In: Levy HL, Hermos RJ, Grady GF, editors. Proceedings of the Third Meeting of the International Society for Neonatal Screening; 1996 oct 20-23 Boston, EUA: IKON/MAP; 1996. p. 285-6.
Kooistra L, Laane C, Vulsma T, Schellekens JM, van der Meere JJ, kalverboer AF. Motor and cognocitive development in children with congenital hypothyroidism: a long-term evaluation of the effects of neonatal treaTNent. J Pediatr 1994; 124: 903-9.
Kaplan MM. Thyroid hormone therapy. What, when, and how much. Postgraduate Medicine 1993; 93:249-62.
Chiobato L, Giusti L, Tonacchera M, Ciampi M, Mammoli C, Lippi F, et al. Evaluation of L- thyroxine replacement therapy in children with congenital hypothyroidism. J Endocrinol Invest 1991; 14: 957-64.
Ilicki A, Larsson A, Mortensson W. Neonatal skeletal maturation in congenital hypothyroidism and its prognostic value for psycomotor development at 3 years in patiens treated early. Horm Res 1990; 33:260-4.
Fisher DA, Dassualt JH, Foley TP, Klein AH, LaFranchi S, Larsen PR, et al. Screening for congenital hypothyroidism: results of screening one million North American infants. J Pediatr 1979; 94: 700-5.