eMedicine Specialties > Pediatrics: General Medicine > Endocrinology
Congenital Hypothyroidism: Multimedia
Updated: May 28, 2008
Multimedia
![]() | Media file 1: An infant with cretinism. Note the hypotonic posture, coarse facial features, and umbilical hernia. |
![]() | Media file 2: Close-up of the face of the infant shown in Media file 1. Note the macroglossia. |
![]() | Media file 3: The infant shown in Media files 1-2 a few months after starting thyroid hormone replacement. |
![]() | Media file 4: Close-up of the infant in Media files 1-3 a few months after starting thyroid hormone replacement. |
More on Congenital Hypothyroidism |
| Overview: Congenital Hypothyroidism |
| Differential Diagnoses & Workup: Congenital Hypothyroidism |
| Treatment & Medication: Congenital Hypothyroidism |
| Follow-up: Congenital Hypothyroidism |
Multimedia: Congenital Hypothyroidism |
| References |
| « Previous Page |
References
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].
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].
Klett M. Epidemiology of congenital hypothyroidism. Exp Clin Endocrinol Diabetes. 1997;105 Suppl 4:19-23. [Medline].
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].
Lorey FW, Cunningham GC. Birth prevalence of primary congenital hypothyroidism by sex and ethnicity. Hum Biol. Aug 1992;64(4):531-8. [Medline].
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].
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].
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].
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].
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].
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].
Dallas JS, Foley TP. Hypothyroidism. In: Sperling MA, ed. Pediatric Endocrinology. 3rd ed. Philadelphia, Pa: WB Saunders Co; 1996:391-9.
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.
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.
Desai MP. Disorders of thyroid gland in India. Indian J Pediatr. Jan-Feb 1997;64(1):11-20. [Medline].
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].
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].
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.
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].
Gruters A, Krude H. Update on the management of congenital hypothyroidism. Horm Res. 2007;68 Suppl 5:107-11. [Medline].
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].
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].
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].
LaFranchi S. Congenital hypothyroidism: etiologies, diagnosis, and management. Thyroid. Jul 1999;9(7):735-40. [Medline].
LaFranchi SH, Austin J. How should we be treating children with congenital hypothyroidism?. J Pediatr Endocrinol Metab. May 2007;20(5):559-78. [Medline].
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].
Mikelsaar RV, Zordania R, Viikmaa M, Kudrjavtseva G. Neonatal screening for congenital hypothyroidism in Estonia. J Med Screen. 1998;5(1):20-1. [Medline].
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].
Moltz KC, Postellon DC. Congenital hypothyroidism and mental development. Compr Ther. 1994;20(6):342-6. [Medline].
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].
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].
Postellon DC. Diagnosis and treatment of congenital hypothyroidism. Compr Ther. Feb 1983;9(2):41-4. [Medline].
Postellon DC, Abdallah A. Congenital hypothyroidism: diagnosis, treatment, and prognosis. Compr Ther. Jan 1986;12(1):67-71. [Medline].
Postellon DC, Hale PM. Diagnosis and treatment of thyroid disease in infants. Compr Ther. Jul 1991;17(7):57-61. [Medline].
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].
Rovet JF. Congenital hypothyroidism: long-term outcome. Thyroid. Jul 1999;9(7):741-8. [Medline].
Rovet JF. Long-term neuropsychological sequelae of early-treated congenital hypothyroidism: effects in adolescence. Acta Paediatr Suppl. Dec 1999;88(432):88-95. [Medline].
Rovet JF, Ehrlich R. Psychoeducational outcome in children with early-treated congenital hypothyroidism. Pediatrics. Mar 2000;105(3 Pt 1):515-22. [Medline].
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].
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].
Sfakianakis GN, Ezuddin SH, Sanchez JE, et al. Pertechnetate scintigraphy in primary congenital hypothyroidism. J Nucl Med. May 1999;40(5):799-804. [Medline].
Stoll C, Dott B, Alembik Y, Koehl C. Congenital anomalies associated with congenital hypothyroidism. Ann Genet. 1999;42(1):17-20. [Medline].
Taketomo CK, Hodding JH, Kraus DM. Pediatric Dosage Handbook. 7th ed. Hudson, Ohio: Lexi-Comp; 2000.
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].
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].
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].
Further Reading
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








Multimedia: Congenital Hypothyroidism