Congenital Hypothyroidism Clinical Presentation

  • Author: Daniel C Postellon, MD; Chief Editor: Stephen Kemp, MD, PhD   more...
 
Updated: May 16, 2011
 

History

In regions of iodide deficiency and a known prevalence of endemic cretinism, the diagnosis may be straightforward.

Infants with congenital hypothyroidism are usually born at term or after term.

Symptoms and signs include the following:

  • Decreased activity
  • Large anterior fontanelle
  • Poor feeding and weight gain
  • Small stature or poor growth
  • Jaundice
  • Decreased stooling or constipation
  • Hypotonia
  • Hoarse cry

Often, they are described as "good babies" because they rarely cry and sleep most of the time.

Family history should be carefully reviewed for information about similarly affected infants or family members with unexplained mental retardation.

Maternal history of a thyroid disorder and mode of treatment, whether before or during pregnancy, can occasionally provide the etiology of the infant's problem.

Congenital hypothyroidism is more common in infants with birthweights less than 2,000 g or more than 4,500 g.[24, 13]

Congenital hypothyroidism is more common in multiple births, with a low concordance rate.[15]

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Physical

The physical findings of hypothyroidism may or may not be present at birth (see the image below).

An infant with cretinism. Note the hypotonic postuAn infant with cretinism. Note the hypotonic posture, coarse facial features, and umbilical hernia.

Signs include the following:

  • Coarse facial features
  • Macroglossia (See the image below.)Note the macroglossia. Note the macroglossia.
  • Large fontanelles
  • Umbilical hernia
  • Mottled, cool, and dry skin
  • Developmental delay
  • Pallor
  • Myxedema
  • Goiter

A small but significant number (3-7%) of infants with congenital hypothyroidism have other birth defects, mainly atrial and ventricular septal defects.[25]

Newborn screening involves the following:

  • Infants with congenital hypothyroidism are usually identified within the first 2-3 weeks of life.
  • These infants should be carefully examined for signs of hypothyroidism, and the diagnosis should be confirmed by repeat testing.
  • Infants with obvious findings of hypothyroidism (eg, macroglossia, enlarged fontanelle, hypotonia) at the time of diagnosis have intelligence quotients (IQs) 10-20 points lower than infants without such findings.

Anemia may occur, due to decreased oxygen carrying requirement.

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Causes

Endemic cretinism is caused by iodine deficiency, and is occasionally exacerbated by naturally occurring goitrogens.[26]

Dysgenesis of the thyroid gland, including agenesis (ie, complete absence of thyroid gland) and ectopy (lingual or sublingual thyroid gland) may be a cause.

Inborn errors of thyroid hormone metabolism include dyshormonogenesis. Most cases are familial and inherited as autosomal recessive conditions. These may also include the following:

  • Thyroid-stimulating hormone (TSH) unresponsiveness (ie, TSH receptor abnormalities)[27]
  • Impaired ability to uptake iodide
  • Peroxidase, or organification, defect (ie, inability to convert iodide to iodine)
  • Pendred syndrome, a familial organification defect associated with congenital deafness
  • Thyroglobulin defect (ie, inability to form or degrade thyroglobulin)
  • Deiodinase defect

Thyroid hormone resistance (ie, thyroid hormone receptor abnormalities) may also be a cause.[27]

In maternal autoimmune disease, transplacental passage of antibodies cause transient or permanent hypothyroidism.[28, 29]

Radioactive iodine therapy of pregnant women may cause permanent congenital hypothyroidism. Iodine in contrast agents or skin disinfectants can cause hypothyroidism or hyperthyrotropinemia in premature neonates.[30]

TSH or thyrotropin-releasing hormone (TRH) deficiencies are also noted. Hypothyroidism can also occur in TSH or TRH deficiencies, either as an isolated problem or in conjunction with other pituitary deficiencies (eg, hypopituitarism). If present with these deficiencies, hypothyroidism is usually milder and is not associated with the significant neurologic morbidity observed in primary hypothyroidism.

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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, Helen DeVos Children's Hospital

Daniel C Postellon, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Coauthor(s)

Maala S Daniel, MBBS  Attending Physician, Division of Pediatric Endocrinology, Helen DeVos Children's Hospital

Maala S Daniel, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Medical Student Association/Foundation, and Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

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.

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 College of Medicine 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: Nothing to disclose.

References

  1. McClure RD. Goiter prophylaxis with iodized salt. Science. Oct 18 1935;82(2129):370-371. [Medline].

  2. Klein AH, Meltzer S, Kenny FM. Improved prognosis in congenital hypothyroidism treated before age three months. J Pediatr. Nov 1972;81(5):912-5. [Medline].

  3. Klein AH, Agustin AV, Foley TP Jr. Successful laboratory screening for congenital hypothyroidism. Lancet. Jul 13 1974;2(7872):77-9. [Medline].

  4. 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].

  5. Dussault JH, Parlow A, Letarte J, Guyda H, Laberge C. TSH measurements from blood spots on filter paper: a confirmatory screening test for neonatal hypothyroidism. J Pediatr. Oct 1976;89(4):550-2. [Medline].

  6. Larsen PR, Merker A, Parlow AF. Immunoassay of human TSH using dried blood samples. J Clin Endocrinol Metab. May 1976;42(5):987-90. [Medline].

  7. 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].

  8. Harris KB, Pass KA. Increase in congenital hypothyroidism in New York State and in the United States. Mol Genet Metab. Jul 2007;91(3):268-77. [Medline].

  9. Hinton CF, Harris KB, Borgfeld L, Drummond-Borg M, Eaton R, Lorey F. Trends in incidence rates of congenital hypothyroidism related to select demographic factors: data from the United States, California, Massachusetts, New York, and Texas. Pediatrics. May 2010;125 Suppl 2:S37-47. [Medline].

  10. Hertzberg V, Mei J, Therrell BL. Effect of laboratory practices on the incidence rate of congenital hypothyroidism. Pediatrics. May 2010;125 Suppl 2:S48-53. [Medline].

  11. Parks JS, Lin M, Grosse SD, Hinton CF, Drummond-Borg M, Borgfeld L. The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States. Pediatrics. May 2010;125 Suppl 2:S54-63. [Medline].

  12. 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].

  13. Kurinczuk JJ, Bower C, Lewis B, Byrne G. Congenital hypothyroidism in Western Australia 1981-1998. J Paediatr Child Health. Apr 2002;38(2):187-91. [Medline].

  14. Medda E, Olivieri A, Stazi MA, Grandolfo ME, Fazzini C, Baserga M. Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003). Eur J Endocrinol. Dec 2005;153(6):765-73. [Medline].

  15. Olivieri A, Medda E, De Angelis S, Valensise H, De Felice M, Fazzini C, et al. High risk of congenital hypothyroidism in multiple pregnancies. J Clin Endocrinol Metab. Aug 2007;92(8):3141-7. [Medline].

  16. Kurtoglu S, Keskin M, Koklu E, Akcakus M, Atabek ME, Hatipoglu N. Congenital goiter in premature twins due to propylthiouracil treatment. J Pediatr Endocrinol Metab. Jul 2007;20(7):771. [Medline].

  17. Akindahunsi AA, Grissom FE, Adewusi SR, Afolabi OA, Torimiro SE, Oke OL. Parameters of thyroid function in the endemic goitre of Akungba and Oke-Agbe villages of Akoko area of southwestern Nigeria. Afr J Med Med Sci. Sep-Dec 1998;27(3-4):239-42. [Medline].

  18. Delange F. Neonatal thyroid screening as a monitoring tool for the control of iodine deficiency. Acta Paediatr Suppl. Dec 1999;88(432):21-4. [Medline].

  19. 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].

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

  21. 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].

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

  23. 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].

  24. 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].

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

  26. 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].

  27. Luca P, Davide C, Daniela C, et al. Genetics and phenomics of hypothyroidism due to TSH resistance. Mol Cell Endocrinol. Jan 18 2010;[Medline].

  28. Zakarija M, McKenzie JM, Eidson MS. Transient neonatal hypothyroidism: characterization of maternal antibodies to the thyrotropin receptor. J Clin Endocrinol Metab. May 1990;70(5):1239-46. [Medline].

  29. Evans C, Jordan NJ, Owens G, Bradley D, Ludgate M, John R. Potent thyrotrophin receptor-blocking antibodies: a cause of transient congenital hypothyroidism and delayed thyroid development. Eur J Endocrinol. Mar 2004;150(3):265-8. [Medline].

  30. l'Allemand D, Grüters A, Beyer P, Weber B. Iodine in contrast agents and skin disinfectants is the major cause for hypothyroidism in premature infants during intensive care. Horm Res. 1987;28(1):42-9. [Medline].

  31. Ares S, Escobar-Morreale HF, Quero J, Durán S, Presas MJ, Herruzo R, et al. Neonatal hypothyroxinemia: effects of iodine intake and premature birth. J Clin Endocrinol Metab. Jun 1997;82(6):1704-12. [Medline].

  32. Kugelman A, Riskin A, Bader D, Koren I. Pitfalls in screening programs for congenital hypothyroidism in premature newborns. Am J Perinatol. May 2009;26(5):383-5. [Medline].

  33. [Best Evidence] Osborn DA. Thyroid hormones for preventing neurodevelopmental impairment in preterm infants. Cochrane Database Syst Rev. 2001;CD001070. [Medline].

  34. Thomas Jde V, Collett-Solberg PF. Perinatal goiter with increased iodine uptake and hypothyroidism due to excess maternal iodine ingestion. Horm Res. 2009;72(6):344-7. [Medline].

  35. Frassetto F, Tourneur Martel F, Barjhoux CE, Villier C, Bot BL, Vincent F. Goiter in a newborn exposed to lithium in utero. Ann Pharmacother. Nov 2002;36(11):1745-8. [Medline].

  36. Gallagher MP, Schachner HC, Levine LS, Fisher DA, Berdon WE, Oberfield SE. Neonatal thyroid enlargement associated with propylthiouracil therapy of Graves' disease during pregnancy: a problem revisited. J Pediatr. Dec 2001;139(6):896-900. [Medline].

  37. Pavan-Senn CC, Nesi-França S, Pelaez J, Pereira RM, Boguszewski MC, Sandrini Neto R, et al. [Transient neonatal hypothyroidism due to amiodarone administration during pregnancy--two cases report and review of literature]. Arq Bras Endocrinol Metabol. Feb 2008;52(1):126-30. [Medline].

  38. Lomenick JP, Jackson WA, Backeljauw PF. Amiodarone-induced neonatal hypothyroidism: a unique form of transient early-onset hypothyroidism. J Perinatol. Jun 2004;24(6):397-9. [Medline].

  39. Brown RS, Bellisario RL, Botero D, Fournier L, Abrams CA, Cowger ML. Incidence of transient congenital hypothyroidism due to maternal thyrotropin receptor-blocking antibodies in over one million babies. J Clin Endocrinol Metab. Mar 1996;81(3):1147-51. [Medline].

  40. Ordookhani A, Pearce EN, Mirmiran P, Azizi F, Braverman LE. Transient congenital hypothyroidism in an iodine-replete area is not related to parental consanguinity, mode of delivery, goitrogens, iodine exposure, or thyrotropin receptor autoantibodies. J Endocrinol Invest. Jan 2008;31(1):29-34. [Medline].

  41. 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].

  42. Trimarchi F, Gemelli M, Benvenga S, Genova R, De Luca F. Transient congenital hypothyroidism in an infant with congenital nephrosis of Finnish type. Acta Paediatr Scand. Jan 1983;72(1):145-7. [Medline].

  43. Zung A, Tenenbaum-Rakover Y, Barkan S, Hanukoglu A, Hershkovitz E, Pinhas-Hamiel O. Neonatal hyperthyrotropinemia: population characteristics, diagnosis, management and outcome after cessation of therapy. Clin Endocrinol (Oxf). May 18 2009;[Medline].

  44. Perry RJ, Maroo S, Maclennan AC, Jones JH, Donaldson MD. Combined ultrasound and isotope scanning is more informative in the diagnosis of congenital hypothyroidism than single scanning. Arch Dis Child. Dec 2006;91(12):972-6. [Medline].

  45. 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].

  46. Perry RJ, Maroo S, Maclennan AC, Jones JH, Donaldson MD. Combined ultrasound and isotope scanning is more informative in the diagnosis of congenital hypothyroidism than single scanning. Arch Dis Child. Dec 2006;91(12):972-6. [Medline].

  47. Lowery GH, Aster RH, Carr EA, Ramon G, Beierwates WH, Spafford NR. Early Diagnostic Criteria of Congenital Hypothyroidism: A Comprehensive Study of Forty-Nine Cretins. Am J Dis Child. 1958;96(2):131-143.

  48. Rovet J, Ehrlich R, Sorbara D. Intellectual outcome in children with fetal hypothyroidism. J Pediatr. May 1987;110(5):700-4. [Medline].

  49. Rovet JF. Children with congenital hypothyroidism and their siblings: do they really differ?. Pediatrics. Jan 2005;115(1):e52-7. [Medline].

  50. Simoneau-Roy J, Marti S, Deal C, Huot C, Robaey P, Van Vliet G. Cognition and behavior at school entry in children with congenital hypothyroidism treated early with high-dose levothyroxine. J Pediatr. Jun 2004;144(6):747-52. [Medline].

  51. 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].

  52. Chen ZP, Hetzel BS. Cretinism revisited. Best Pract Res Clin Endocrinol Metab. Feb 2010;24(1):39-50. [Medline].

  53. 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].

  54. Conrad SC, Chiu H, Silverman BL. Soy formula complicates management of congenital hypothyroidism. Arch Dis Child. Jan 2004;89(1):37-40. [Medline].

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

  56. [Guideline] Jones JH, Donaldson MD. Audit of initial management of congenital hypothyroidism in the United Kingdom--comparison of UK practice with European and UK guidelines. J Pediatr Endocrinol Metab. Nov 2009;22(11):1017-25. [Medline].

  57. Hindmarsh PC. Optimisation of thyroxine dose in congenital hypothyroidism. Arch Dis Child. Feb 2002;86(2):73-5. [Medline].

  58. Raymond J, LaFranchi SH. Fetal and neonatal thyroid function: review and summary of significant new findings. Curr Opin Endocrinol Diabetes Obes. Feb 2010;17(1):1-7. [Medline].

  59. Rovet JF. In search of the optimal therapy for congenital hypothyroidism. J Pediatr. Jun 2004;144(6):698-700. [Medline].

  60. Selva KA, Harper A, Downs A, Blasco PA, Lafranchi SH. Neurodevelopmental outcomes in congenital hypothyroidism: comparison of initial T4 dose and time to reach target T4 and TSH. J Pediatr. Dec 2005;147(6):775-80. [Medline].

  61. Campos SP, Sandberg DE, Barrick C, Voorhess ML, MacGillivray MH. Outcome of lower L-thyroxine dose for treatment of congenital hypothyroidism. Clin Pediatr (Phila). Oct 1995;34(10):514-20. [Medline].

  62. Penny R, Frasier SD. Elevated serum concentrations of triiodothyronine in hypothyroid patients. Values for patients receiving USP thyroid. Am J Dis Child. Jan 1980;134(1):16-8. [Medline].

  63. 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].

  64. Eugster EA, LeMay D, Zerin JM, Pescovitz OH. Definitive diagnosis in children with congenital hypothyroidism. J Pediatr. May 2004;144(5):643-7. [Medline].

  65. Benmiloud M, Chaouki ML, Gutekunst R, Teichert HM, Wood WG, Dunn JT. Oral iodized oil for correcting iodine deficiency: optimal dosing and outcome indicator selection. J Clin Endocrinol Metab. Jul 1994;79(1):20-4. [Medline].

  66. 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].

  67. Grosse SD, Van Vliet G. Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level?. Arch Dis Child. Jan 31 2011;[Medline].

  68. Leger J, Ecosse E, Roussey M, Lanoe JL, Larroque B,. Subtle Health Impairment and Socioeducational Attainment in Young Adult Patients with Congenital Hypothyroidism Diagnosed by Neonatal Screening: A Longitudinal Population-Based Cohort Study. J Clin Endocrinol Metab. Mar 9 2011;[Medline].

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

  70. Delange F. Iodine deficiency as a cause of brain damage. Postgrad Med J. Apr 2001;77(906):217-20. [Medline].

  71. 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.

  72. 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.

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

  74. 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].

  75. Fagman H, Nilsson M. Morphogenesis of the thyroid gland. Mol Cell Endocrinol. Dec 21 2009;[Medline].

  76. 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.

  77. 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].

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

  79. 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].

  80. 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].

  81. 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].

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

  83. LaFranchi SH, Buist NR, Murphey WH, Larsen PR, Foley TP Jr. Transient neonatal hypothyroidism detected by newborn screening program. Pediatrics. Oct 1977;60(4):539-41. [Medline].

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

  85. 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].

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

  87. 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].

  88. 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].

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

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

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

  92. 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].

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

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

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

  96. 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].

  97. 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].

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

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

  100. 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].

 
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An infant with cretinism. Note the hypotonic posture, coarse facial features, and umbilical hernia.
Note the macroglossia.
An infant shown a few months after starting thyroid hormone replacement.
Infant a few months after starting thyroid hormone replacement.
 
 
 
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