Aggiornamento monografico
L’ipotiroidismo congenito
CONGENITAL HYPOTHYROIDISM
GIORGIO TONINI, MARZIA LAZZERINI
Clinica Pediatrica, IRCCS “Burlo Garofolo”, Trieste
Ottobre 1999 - pagg. 481 -488
Abstract
The incidence of Primary Congenital Hypothyroidism (PCH) is about 1:2000. Most cases are
due to a dysgenetic/ectopic thyroid. Only in a small minority of cases a defect in the iodine
metabolism is present. Congenital hypothyroidism secondary to a defect of hypotalamic
(TRH) or pituitary (TSH) function is very rare (1:50.000) and usually associated to other defects
of pituitary hormones. Clinical signs may suggest the presence of hypothyroidism in the
neonate, but only the neonatal screening (TSH and T4 serum level determination) guarantees
a timely diagnosis for all cases. Investigations such as scintigraphy, sonography and X-ray
of tibial nucleus are complementary aids for the diagnosis. Treatment (L-tyroxine, 8-10
mg/kg/die) must be started as soon as possible. A carefull follow up is needed. A transient
neonatal hypothyroidism is possible, expecially in premature newborns. Other conditions
may cause TNH but, as a rule, no treatment is needed in these cases.
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Bibliografia
1. Burrow GN, Fisher DA, Larsen PR: Maternal
and fetal thyroid function. N Engl J Med
331, 1072-78, 1994.
2. Fisher DA, Klein AH: Thyroid development and disorders of thyroid function in the newborn. N Engl J Med 304, 702-12, 1981.
3. Monreale de Escobar G, Obregon MJ, Ruiz de Ona C, Escobar del Rey F: Transfer of thyroxine from the mother to the fetus near term: effect on brain 3,5,3’ triiodothyronine deficiency. Endocrinology 122, 1521-31, 1988.
4. Ruiz de Ona C, Obregon MJ, Escobar del Rey F, Monreale de Escobar G: Developmental changes in rat brain 5’-deiodinase and thyroid hormones during the fetal period: the effects of fetal hypothyroidism and maternal thyroid hormones. Pediatr Res 24, 588-594, 1988.
5. Sorcini N, Balestrazzi P, Gandolfo ME, Carta S, Giovannelli G: The National Register of infants with congenital hypothyroidism detected by neonatal screening in Italy. J Endocrinol Invest 16, 573-577, 1993.
6. L’ipotiroidismo congenito in Italia. 16° Workshop su: La tiroidite cronica autoimmune nell’età evolutiva. Lo screening e il Registro nazionale nel 1996. L’outcome dell’ipotiroidismo congenito. Parma, 22 marzo 1997. Ed G Giovannelli e C Volta, Editrice CSH srl, Milano 1998.
7. Sunthomthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S: Resistance to thyrotropin caused by mutations in the thyrotropinreceptor gene. N Engl J Med 322, 155-160, 1995.
8. Bikker H, Waelkens JJJ, Bravenboer B, De Vijlder JJM: Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxydase gene. J Clin Endocrinol Metab 81, 2076-79, 1996.
9. Root AV: The role of maternal autoimmune thyroid disease in neonatal hypothyroidism. Am J Dis Child 146, 1029-30, 1992.
10. Delange F: Neonatal Screening for congenital hypothyroidism: results and perspectives. Horm Research 48, 51-61, 1997.
11. Dammacco F, Dammacco A, Cavallo T: Serum Thyroglobulin and thyroid ultrasound studies in infants with congenital hypothyroidism. J Pediatr 56, 242-45, 1985.
12. Delange F: Hypothyroidism: recent developments. Baillières Clinical Endocrinology and Metabolism 2, 637-52, 1988.
13. Mitchell ML, Hermos RJ: Measurement of Thyroglobulin in newborn screening specimens from normal and hypothyroid infants. Clin Endocrinol 42, 523-527, 1995.
14. Ermans AM, Verelst J, Delange F: Scintigrafy in congenital hypothyroidism. In: Delange F, Fisher DA, Glinoer D (eds), Research in congenital hypothyroidism. New York: Plenum Press, 1989.
15. Rocchicciol P, Dutau G, Despert F, Roge B, Sablayrolles B, Enjaume C: La surface des épiphyses du genou: index d’ancienneté de l’hypothyroïdie néonatale. Arc Fr Pédiatr 41, 329-32, 1984.
16. Germak JA, Foley TP: Longitudinal Assessment of L-thyroxine therapy for congenital hypothyroidism. J Pediatr 117, 211-19, 1990.
17. Rovet JF, Ehrlich RM, Sorbara DL: Neurodevelopment in infants and preschool children with congenital hypothyroidism. Biological and treatment factors affecting outcome. J Pediatr Psycol 17, 187, 1992.
18. Bunevicius R, Kazanavicius G, Zalinkevicius R, Prange AJ: Effects of thyroxine as compared with thyroxine plus triiodothyronine in patients with hypothyroidism. N Engl J Med 340, 424-29, 1999.
19. Toft AD: Thyroid hormone replacementone hormone or two? N Engl J Med 340, 469- 70, 1999.
20. Burstein PJ, Draznin B, Johnson CJ, Schalch DS: The effect of hypothyroidism on growth, serum growth hormone, the growth hormone dependent somatomedin insulin like growth factor, and its carrier protein in rats. Endocrinology 104, 1107-11, 1979.
21. Sava L, Delange F, Belfiore A, Purello A, Vigneri R: Transient impairment of thyroid function in newborn from area of endemic goiter. J Clin Endocrinol Metab 59(1), 90-5, 1987.
22. Harada S, Ichihara N, Honma H, Matsuura N, Fujieda K: Influence of iodine excess due to iodine-containing antiseptics on neonatal screening for congenital hypothyroidism in Hokkaido prefecture, Japan. Screening 3, 115-23, 1994.
23. Fisher DA: Euthyroid low thyroxine (T4) and triiodothyronine (T3) states in prematures and sick neonates. Ped Clin N Am 37 (6), 1297-312, 1990.
2. Fisher DA, Klein AH: Thyroid development and disorders of thyroid function in the newborn. N Engl J Med 304, 702-12, 1981.
3. Monreale de Escobar G, Obregon MJ, Ruiz de Ona C, Escobar del Rey F: Transfer of thyroxine from the mother to the fetus near term: effect on brain 3,5,3’ triiodothyronine deficiency. Endocrinology 122, 1521-31, 1988.
4. Ruiz de Ona C, Obregon MJ, Escobar del Rey F, Monreale de Escobar G: Developmental changes in rat brain 5’-deiodinase and thyroid hormones during the fetal period: the effects of fetal hypothyroidism and maternal thyroid hormones. Pediatr Res 24, 588-594, 1988.
5. Sorcini N, Balestrazzi P, Gandolfo ME, Carta S, Giovannelli G: The National Register of infants with congenital hypothyroidism detected by neonatal screening in Italy. J Endocrinol Invest 16, 573-577, 1993.
6. L’ipotiroidismo congenito in Italia. 16° Workshop su: La tiroidite cronica autoimmune nell’età evolutiva. Lo screening e il Registro nazionale nel 1996. L’outcome dell’ipotiroidismo congenito. Parma, 22 marzo 1997. Ed G Giovannelli e C Volta, Editrice CSH srl, Milano 1998.
7. Sunthomthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S: Resistance to thyrotropin caused by mutations in the thyrotropinreceptor gene. N Engl J Med 322, 155-160, 1995.
8. Bikker H, Waelkens JJJ, Bravenboer B, De Vijlder JJM: Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxydase gene. J Clin Endocrinol Metab 81, 2076-79, 1996.
9. Root AV: The role of maternal autoimmune thyroid disease in neonatal hypothyroidism. Am J Dis Child 146, 1029-30, 1992.
10. Delange F: Neonatal Screening for congenital hypothyroidism: results and perspectives. Horm Research 48, 51-61, 1997.
11. Dammacco F, Dammacco A, Cavallo T: Serum Thyroglobulin and thyroid ultrasound studies in infants with congenital hypothyroidism. J Pediatr 56, 242-45, 1985.
12. Delange F: Hypothyroidism: recent developments. Baillières Clinical Endocrinology and Metabolism 2, 637-52, 1988.
13. Mitchell ML, Hermos RJ: Measurement of Thyroglobulin in newborn screening specimens from normal and hypothyroid infants. Clin Endocrinol 42, 523-527, 1995.
14. Ermans AM, Verelst J, Delange F: Scintigrafy in congenital hypothyroidism. In: Delange F, Fisher DA, Glinoer D (eds), Research in congenital hypothyroidism. New York: Plenum Press, 1989.
15. Rocchicciol P, Dutau G, Despert F, Roge B, Sablayrolles B, Enjaume C: La surface des épiphyses du genou: index d’ancienneté de l’hypothyroïdie néonatale. Arc Fr Pédiatr 41, 329-32, 1984.
16. Germak JA, Foley TP: Longitudinal Assessment of L-thyroxine therapy for congenital hypothyroidism. J Pediatr 117, 211-19, 1990.
17. Rovet JF, Ehrlich RM, Sorbara DL: Neurodevelopment in infants and preschool children with congenital hypothyroidism. Biological and treatment factors affecting outcome. J Pediatr Psycol 17, 187, 1992.
18. Bunevicius R, Kazanavicius G, Zalinkevicius R, Prange AJ: Effects of thyroxine as compared with thyroxine plus triiodothyronine in patients with hypothyroidism. N Engl J Med 340, 424-29, 1999.
19. Toft AD: Thyroid hormone replacementone hormone or two? N Engl J Med 340, 469- 70, 1999.
20. Burstein PJ, Draznin B, Johnson CJ, Schalch DS: The effect of hypothyroidism on growth, serum growth hormone, the growth hormone dependent somatomedin insulin like growth factor, and its carrier protein in rats. Endocrinology 104, 1107-11, 1979.
21. Sava L, Delange F, Belfiore A, Purello A, Vigneri R: Transient impairment of thyroid function in newborn from area of endemic goiter. J Clin Endocrinol Metab 59(1), 90-5, 1987.
22. Harada S, Ichihara N, Honma H, Matsuura N, Fujieda K: Influence of iodine excess due to iodine-containing antiseptics on neonatal screening for congenital hypothyroidism in Hokkaido prefecture, Japan. Screening 3, 115-23, 1994.
23. Fisher DA: Euthyroid low thyroxine (T4) and triiodothyronine (T3) states in prematures and sick neonates. Ped Clin N Am 37 (6), 1297-312, 1990.