eMedicine Specialties > Pediatrics: General Medicine > Endocrinology

Congenital Hypothyroidism: Differential Diagnoses & Workup

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

Differential Diagnoses

Beckwith-Wiedemann Syndrome
Panhypopituitarism
Cognitive Deficits
Thyroiditis
Growth Failure
Hypopituitarism
Hypothyroidism

Other Problems to Be Considered

Endemic cretinism
Goiter
Iodide deficiency
Pendred syndrome
TBG deficiency

Workup

Laboratory Studies

  • Diagnosis of primary hypothyroidism is confirmed by demonstrating decreased levels of serum thyroid hormone (total or free T4) and elevated levels of TSH.
  • If maternal antibody–mediated hypothyroidism is suspected, maternal or neonatal antithyroid antibodies may confirm the diagnosis.
  • TBG levels can be measured in infants with suspected TBG deficiency. This condition does not require treatment, but appropriate diagnosis and parental counseling can avoid later confusion and misdiagnosis.
  • Routine laboratory testing in patients with TBG deficiency shows a low total T4 level and a TSH level within the reference range. Free T4 and T3 levels are within the reference range.

Imaging Studies

  • Thyroid scanning (using technetium-99m or iodine-123) may be useful in defining the cause of hypothyroidism and may aid in genetic counseling. No radionuclide uptake suggests sporadic athyrotic hypothyroidism. Such scans can also demonstrate the presence of an ectopic thyroid, such as a lingual or sublingual gland, which is also sporadic. The presence of a bilobed thyroid in the appropriate position would suggest an inborn error of thyroid hormone production.
  • Ultrasonography may be a reasonable alternative to scintigraphy but may fail to reveal some ectopic glands.
  • A lateral radiograph of the knee may be obtained to look for the distal femoral epiphysis. This ossification center appears at about 36 weeks' gestation. Its absence in a term or postterm infant indicates prenatal effects of hypothyroidism, which is a poor prognostic sign.

Other Tests

  • Neonatal hypothyroidism screening, using TSH levels, has proven helpful in countries with mild to no iodine deficiency. It has not been found useful in countries with moderate-to-severe levels of iodine deficiency disorders (IDD) because resources are insufficient to deal with the problem, and efforts here should be made to supply sufficient iodine to the population as a whole.
  • In infants with suspected dyshormonogenesis, radioactive iodine uptake (iodine-123) and perchlorate flush testing (KCIO2) can be performed to determine the presence of an iodide uptake or organification defect. The results of these tests rarely alter the treatment of the patient, and the tests are generally not recommended.

More on Congenital Hypothyroidism

Overview: Congenital Hypothyroidism
Differential Diagnoses & Workup: Congenital Hypothyroidism
Treatment & Medication: Congenital Hypothyroidism
Follow-up: Congenital Hypothyroidism
Multimedia: Congenital Hypothyroidism
References
[ CLOSE WINDOW ]

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].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

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

[ CLOSE WINDOW ]

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

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.