eMedicine Specialties > Pediatrics: General Medicine > Endocrinology

Congenital Hypothyroidism: Follow-up

Author: Daniel C Postellon, MD, Clinical Associate Professor, College of Human Medicine, Pediatrics and Human Development, Michigan State University; Consulting Staff, Pediatric Endocrine Clinic, DeVos Children's Hospital
Coauthor(s): Michael J Bourgeois, MD, Director of Pediatric Undergraduate Medical Education, Associate Professor, Department of Pediatrics, Division of Pediatric Endocrinology and Metabolism, Texas Tech University School of Medicine; Surendra Varma, MD, Vice-Chairman and Program Director, University Distinguished Professor, Department of Pediatrics, Texas Tech University School of Medicine
Contributor Information and Disclosures

Updated: May 28, 2008

Follow-up

Further Outpatient Care

  • Children with congenital hypothyroidism should be monitored clinically and biochemically. Clinical parameters should include linear growth, weight gain, developmental progression, and overall well-being.
  • Laboratory measurements of T4 (total or free T4) and TSH should be repeated 4-6 weeks after initiation of therapy, then every 1-3 months during the first year of life and every 2-4 months during the second and third years. In children aged 3 years and older, the time interval between measurements may be increased, depending on the reliability of the patient's caretakers. As dosage changes are made, testing should be more frequent.
  • Formal developmental and psychoneurological evaluations should be considered in all infants with congenital hypothyroidism. Such evaluations are especially important in children whose treatment was delayed or inadequate. As mentioned above, infants diagnosed early who have detectable signs of hypothyroidism at the time of diagnosis are also at increased risk of developmental problems. As with any child, school progression should be monitored and parents encouraged to seek early evaluations and interventions as soon as problems are recognized.10
  • Thyroid hormone replacement and medical monitoring are required for life.

Deterrence/Prevention

  • Dietary iodide supplementation can prevent endemic goiter and cretinism, but not sporadic congenital hypothyroidism.
  • Properly administered newborn screening programs have made diagnosis of infants with congenital hypothyroidism possible within the first 3 weeks of life. With early and adequate treatment, the sequelae can be eliminated in most and minimized in the rest.
  • Methods of prenatal diagnosis and treatment are being evaluated.

Prognosis

  • Early diagnosis and treatment of congenital hypothyroidism prevents severe mental retardation and other neurologic complications. Even with early treatment, some children demonstrate mild delays in areas such as reading comprehension and arithmetic in third grade. Some of these delays improve by sixth grade.
  • As might be expected, infants with delayed bone age at diagnosis or a longer time to normalize thyroid hormone levels have poorer outcomes. Although continued improvement in IQ has been documented in treated patients through adolescence, some cognitive problems may persist. These may include problems in visuospatial, language, and fine motor function. Defects in memory and attention may also be present.

Patient Education

  • Parents should be educated regarding their child's disorder, the potential problems associated with no treatment or inadequate treatment, and the benefits of early and appropriate treatment. This should include instructions on the proper administration of the medication and how and when to follow up with the physician. Because learning problems are possible, even with early diagnosis and treatment, parents should be advised when to seek psychomotor and educational evaluations and interventions. Early childhood intervention programs, if available, should be encouraged.
  • When inborn errors of thyroid hormone production are suspected, genetic counseling should be provided.
  • For excellent patient education resources, visit eMedicine's Endocrine System Center. Also, see eMedicine's patient education article Thyroid Problems.

Miscellaneous

Medicolegal Pitfalls

  • Failure to diagnose and treat early any patient with congenital hypothyroidism to prevent severe mental retardation and other neurologic complications
 


More on Congenital Hypothyroidism

Overview: Congenital Hypothyroidism
Differential Diagnoses & Workup: Congenital Hypothyroidism
Treatment & Medication: Congenital Hypothyroidism
Follow-up: Congenital Hypothyroidism
Multimedia: Congenital Hypothyroidism
References
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References

  1. Delange F. Screening for congenital hypothyroidism used as an indicator of the degree of iodine deficiency and of its control. Thyroid. Dec 1998;8(12):1185-92. [Medline].

  2. de Vijlder JJ, Ris-Stalpers C, Vulsma T. Inborn errors of thyroid hormone biosynthesis. Exp Clin Endocrinol Diabetes. 1997;105 Suppl 4:32-7. [Medline].

  3. Klett M. Epidemiology of congenital hypothyroidism. Exp Clin Endocrinol Diabetes. 1997;105 Suppl 4:19-23. [Medline].

  4. Sack J, Feldman I, Kaiserman I. Congenital hypothyroidism screening in the West Bank: a test case for screening in developing regions. Horm Res. Sep 1998;50(3):151-4. [Medline].

  5. Lorey FW, Cunningham GC. Birth prevalence of primary congenital hypothyroidism by sex and ethnicity. Hum Biol. Aug 1992;64(4):531-8. [Medline].

  6. Devos H, Rodd C, Gagne N, Laframboise R, Van Vliet G. A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformations. J Clin Endocrinol Metab. Jul 1999;84(7):2502-6. [Medline].

  7. Cao XY, Jiang XM, Dou ZH, Rakeman MA, Zhang ML, O'Donnell K. Timing of vulnerability of the brain to iodine deficiency in endemic cretinism. N Engl J Med. Dec 29 1994;331(26):1739-44. [Medline].

  8. Bongers-Schokking JJ, Koot HM, Wiersma D, et al. Influence of timing and dose of thyroid hormone replacement on development in infants with congenital hypothyroidism. J Pediatr. Mar 2000;136(3):292-7. [Medline].

  9. Chorazy PA, Himelhoch S, Hopwood NJ, Greger NG, Postellon DC. Persistent hypothyroidism in an infant receiving a soy formula: case report and review of the literature. Pediatrics. Jul 1995;96(1 Pt 1):148-50. [Medline].

  10. Bargagna S, Dinetti D, Pinchera A, et al. School attainments in children with congenital hypothyroidism detected by neonatal screening and treated early in life. Eur J Endocrinol. May 1999;140(5):407-13. [Medline].

  11. Buist NR, Murphey WF, Brandon GR, Foley TP Jr, Penn RL. Letter: Neonatal screening for hypothyroidism. Lancet. Nov 1 1975;2(7940):872-3. [Medline].

  12. Dallas JS, Foley TP. Hypothyroidism. In: Sperling MA, ed. Pediatric Endocrinology. 3rd ed. Philadelphia, Pa: WB Saunders Co; 1996:391-9.

  13. Delange FM. Endemic cretinism. In: Werner & Ingbar's The Thyroid: A Fundamental and Clinical Text. 7th ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 1996:756-68.

  14. DeLong GR. The neuromuscular system and brain in hypothyroidism. In: Werner & Ingbar's The Thyroid: A Fundamental and Clinical Text. 7th ed. Philadelphia, Pa:. Lippincott Williams & Wilkins;1996:826-36.

  15. Desai MP. Disorders of thyroid gland in India. Indian J Pediatr. Jan-Feb 1997;64(1):11-20. [Medline].

  16. Elbualy M, Bold A, De Silva V, Gibbons U. Congenital hypothyroid screening: the Oman experience. J Trop Pediatr. Apr 1998;44(2):81-3. [Medline].

  17. Finnegan JT, Slosberg EJ, Postellon DC, Primack WA. Congenital nephrotic syndrome detected by hypothyroid screening. Acta Paediatr Scand. Sep 1980;69(5):705-6. [Medline].

  18. Foley T, Malvaux P, Blizzard RM. Thyroid disorders. In: Kappy MS, Blizzard RM, Migeon CJ, eds. The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence. 4th ed. Baltimore, Md: Williams & Wilkins; 1994:457-534.

  19. Foley TP Jr, Klein AH, Foley B, Agustin AV, MacDonald HM, Hopwood N. [TSH-screening program for congenital hypothyroidism. Experiences with early thyrotropin (TSH) screening]. Fortschr Med. Feb 8 1979;97(6):221-4. [Medline].

  20. Gruters A, Krude H. Update on the management of congenital hypothyroidism. Horm Res. 2007;68 Suppl 5:107-11. [Medline].

  21. Hsiao PH, Chiu YN, Tsai WY, et al. Intellectual outcomes of patients with congenital hypothyroidism not detected by neonatal screening. J Formos Med Assoc. Jul 1999;98(7):512-5. [Medline].

  22. Jalil MQ, Mia MJ, Ali SM. Epidemiological study of endemic cretinism in a hyperendemic area. Bangladesh Med Res Counc Bull. Apr 1997;23(1):34-7. [Medline].

  23. Kouame P, Bellis G, Tebbi A, et al. The prevalence of goitre and cretinism in a population of the west Ivory Coast. Coll Antropol. Jun 1998;22(1):31-41. [Medline].

  24. LaFranchi S. Congenital hypothyroidism: etiologies, diagnosis, and management. Thyroid. Jul 1999;9(7):735-40. [Medline].

  25. LaFranchi SH, Austin J. How should we be treating children with congenital hypothyroidism?. J Pediatr Endocrinol Metab. May 2007;20(5):559-78. [Medline].

  26. Medda E, Olivieri A, Stazi MA, et al. Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003). Eur J Endocrinol. Dec 2005;153(6):765-73. [Medline].

  27. Mikelsaar RV, Zordania R, Viikmaa M, Kudrjavtseva G. Neonatal screening for congenital hypothyroidism in Estonia. J Med Screen. 1998;5(1):20-1. [Medline].

  28. Mirabella G, Feig D, Astzalos E, et al. The effect of abnormal intrauterine thyroid hormone economies on infant cognitive abilities. J Pediatr Endocrinol Metab. Feb 2000;13(2):191-4. [Medline].

  29. Moltz KC, Postellon DC. Congenital hypothyroidism and mental development. Compr Ther. 1994;20(6):342-6. [Medline].

  30. Moreno-Reyes R, Suetens C, Mathieu F, et al. Kashin-Beck osteoarthropathy in rural Tibet in relation to selenium and iodine status. N Engl J Med. Oct 15 1998;339(16):1112-20. [Medline].

  31. Murdoch DR, Harding EG, Dunn JT. Persistence of iodine deficiency 25 years after initial correction efforts in the Khumbu region of Nepal. N Z Med J. Jul 23 1999;112(1092):266-8. [Medline].

  32. Postellon DC. Diagnosis and treatment of congenital hypothyroidism. Compr Ther. Feb 1983;9(2):41-4. [Medline].

  33. Postellon DC, Abdallah A. Congenital hypothyroidism: diagnosis, treatment, and prognosis. Compr Ther. Jan 1986;12(1):67-71. [Medline].

  34. Postellon DC, Hale PM. Diagnosis and treatment of thyroid disease in infants. Compr Ther. Jul 1991;17(7):57-61. [Medline].

  35. Rajatanavin R, Chailurkit L, Winichakoon P, et al. Endemic cretinism in Thailand: a multidisciplinary survey. Eur J Endocrinol. Oct 1997;137(4):349-55. [Medline].

  36. Rovet JF. Congenital hypothyroidism: long-term outcome. Thyroid. Jul 1999;9(7):741-8. [Medline].

  37. Rovet JF. Long-term neuropsychological sequelae of early-treated congenital hypothyroidism: effects in adolescence. Acta Paediatr Suppl. Dec 1999;88(432):88-95. [Medline].

  38. Rovet JF, Ehrlich R. Psychoeducational outcome in children with early-treated congenital hypothyroidism. Pediatrics. Mar 2000;105(3 Pt 1):515-22. [Medline].

  39. Salerno M, Militerni R, Di Maio S, et al. Intellectual outcome at 12 years of age in congenital hypothyroidism. Eur J Endocrinol. Aug 1999;141(2):105-10. [Medline].

  40. Schoen EJ, Clapp W, To TT, Fireman BH. The key role of newborn thyroid scintigraphy with isotopic iodide (123I) in defining and managing congenital hypothyroidism. Pediatrics. Dec 2004;114(6):e683-8. [Medline]. [Full Text].

  41. Sfakianakis GN, Ezuddin SH, Sanchez JE, et al. Pertechnetate scintigraphy in primary congenital hypothyroidism. J Nucl Med. May 1999;40(5):799-804. [Medline].

  42. Stoll C, Dott B, Alembik Y, Koehl C. Congenital anomalies associated with congenital hypothyroidism. Ann Genet. 1999;42(1):17-20. [Medline].

  43. Taketomo CK, Hodding JH, Kraus DM. Pediatric Dosage Handbook. 7th ed. Hudson, Ohio: Lexi-Comp; 2000.

  44. Tonglet R, Bourdoux P, Minga T, Ermans AM. Efficacy of low oral doses of iodized oil in the control of iodine deficiency in Zaire. N Engl J Med. Jan 23 1992;326(4):236-41. [Medline].

  45. Vela M, Gamboa S, Loera-Luna A, et al. Neonatal screening for congenital hypothyroidism in Mexico: experience, obstacles, and strategies. J Med Screen. 1999;6(2):77-9. [Medline].

  46. Waller DK, Anderson JL, Lorey F, Cunningham GC. Risk factors for congenital hypothyroidism: an investigation of infant's birth weight, ethnicity, and gender in California, 1990-1998. Teratology. Jul 2000;62(1):36-41. [Medline].

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Further Reading

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Keywords

congenital hypothyroidism, thyroid dysfunction, congenital myxedema, endemic cretinism, hypothyroidism, sporadic cretinism, thyroid, inadequate thyroid hormone production, inborn error of thyroid metabolism, iodine deficiency, goiter, thyroid aplasia, thyroid dysplasia, thyroid ectopy, ectopic thyroid, hyperthyroidism, dyshormonogenesis, hypothalamic-pituitary dysfunction, jaundice, hypotonia, macroglossia, umbilical hernia, developmental delay, myxedema, Pendred syndrome, thyroglobulin defect, deiodinase defect, hypopituitarism

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Contributor Information and Disclosures

Author

Daniel C Postellon, MD, Clinical Associate Professor, College of Human Medicine, Pediatrics and Human Development, Michigan State University; Consulting Staff, Pediatric Endocrine Clinic, DeVos Children's Hospital
Daniel C Postellon, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, and Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Coauthor(s)

Michael J Bourgeois, MD, Director of Pediatric Undergraduate Medical Education, Associate Professor, Department of Pediatrics, Division of Pediatric Endocrinology and Metabolism, Texas Tech University School of Medicine
Michael J Bourgeois, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, and Texas Medical Association
Disclosure: Nothing to disclose.

Surendra Varma, MD, Vice-Chairman and Program Director, University Distinguished Professor, Department of Pediatrics, Texas Tech University School of Medicine
Surendra Varma, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Diabetes Association, American Medical Association, American Thyroid Association, Endocrine Society, Medical Group Management Association, New York Academy of Sciences, Sigma Xi, Society for Pediatric Radiology, Southern Society for Pediatric Research, and Texas Medical Association
Disclosure: Nothing to disclose.

Medical Editor

Arlan L Rosenbloom, MD, Adjunct Distinguished Service Professor Emeritus of Pediatrics, University of Florida; Fellow of the American Academy of Pediatrics; Fellow of the American College of Epidemiology
Arlan L Rosenbloom, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Epidemiology, American Pediatric Society, Endocrine Society, Florida Pediatric Society, Lawson-Wilkins Pediatric Endocrine Society, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Barry B Bercu, MD, Professor, Departments of Pediatrics, Molecular Pharmacology and Physiology, University of South Florida College of Medicine, All Children's Hospital
Barry B Bercu, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Federation for Clinical Research, American Medical Association, American Pediatric Society, Association of Clinical Scientists, Endocrine Society, Florida Medical Association, Lawson-Wilkins Pediatric Endocrine Society, Pituitary Society, Society for Pediatric Research, Society for the Study of Reproduction, and Southern Society for Pediatric Research
Disclosure: Nothing to disclose.

CME Editor

Merrily P M Poth, MD, Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences
Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD, Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas and Arkansas Children's Hospital
Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, and Southern Society for Pediatric Research
Disclosure: Genentech, Inc. Honoraria Speaking and teaching; Pfiser, Inc. Honoraria Consulting

 
 
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