Pediatric Hypothyroidism Differential Diagnoses

  • Author: Robert J Ferry Jr, MD; Chief Editor: Stephen Kemp, MD, PhD   more...
 
Updated: Aug 12, 2010
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Robert J Ferry Jr, MD  Chief, Division of Pediatric Endocrinology and Metabolism, Le Bonheur Children's Hospital; Professor, Department of Pediatrics, University of Tennessee Health Science Center at Memphis; St. Jude Children's Research Hospital, Memphis, TN; Brigade Surgeon, 36th Sustainment Brigade, U.S. Army; Adjunct Professor, Pediatric Surgery Department, King Saud University, Riyadh, Saudi Arabia

Robert J Ferry Jr, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, American Medical Association, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, Society for Pediatric Research, and Texas Pediatric Society

Disclosure: Nutropin Speakers Bureau Honoraria Speaking and teaching; Genotropin Speakers Bureau Honoraria Speaking and teaching; Eli Lilly & Co. Grant/research funds Independent contractor; MacroGenics, Inc. Grant/research funds Independent contractor; Ipsen, S.A. (formerly Tercica, Inc.) Grant/research funds Independent contractor; NovoNordisk SA Grant/research funds Independent contractor; Diamyd Independent contractor

Coauthor(s)

Andrew J Bauer, MD  Program Director, Pediatric Endocrinology Fellowship, Uniformed Services University of the Health Sciences; Chief, Pediatric Endocrinology, Walter Reed Army Medical Center/National Naval Medical Center

Andrew J Bauer, MD is a member of the following medical societies: American Academy of Pediatrics, American Thyroid Association, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Thomas A Wilson, MD  Professor of Clinical Pediatrics, Director of Pediatric Endocrinology, Department of Pediatrics, The School of Medicine at Stony Brook University Medical Center

Thomas A Wilson, MD is a member of the following medical societies: Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London)  Professor and Chair, First Department of Pediatrics, Athens University Medical School, Aghia Sophia Children's Hospital, Greece; UNESCO Chair on Adolescent Health Care, University of Athens, Athens, Greece

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London) is a member of the following medical societies: American Academy of Pediatrics, American College of Endocrinology, American College of Physicians, American Pediatric Society, American Society for Clinical Investigation, Association of American Physicians, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, and 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 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. Abalovich M, Amino N, Barbour LA, et al. Management of thyroid dysfunction during pregnancy and postpartum: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2007;92(8 Suppl):S1-47. [Medline].

  2. Ayala AR, Danese MD, Ladenson PW. When to treat mild hypothyroidism. Endocrinol Metab Clin North Am. Jun 2000;29(2):399-415. [Medline].

  3. 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].

  4. Brown RS, Bellisario RL, Botero D, et al. 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].

  5. Brown RS, Keating P, Mitchell E. Maternal thyroid-blocking immunoglobulins in congenital hypothyroidism. J Clin Endocrinol Metab. May 1990;70(5):1341-6. [Medline].

  6. Cross G, Pitoia F, Suárez H, Kral M, Manavela M, Morando D, et al. High prevalence of thyroid disorders in relatives of patients with familial papillary thyroid cancer. Medicina (B Aires). 2010;70(2):139-142. [Medline].

  7. Daliva AL, Linder B, DiMartino-Nardi J, Saenger P. Three-year follow-up of borderline congenital hypothyroidism. J Pediatr. Jan 2000;136(1):53-6. [Medline].

  8. DeBoer MD, Lafranchi SH. Pediatric thyroid testing issues. Pediatr Endocrinol Rev. 2007;5 Suppl 1:570-7. [Medline].

  9. Dubuis JM, Glorieux J, Richer F, et al. Outcome of severe congenital hypothyroidism: closing the developmental gap with early high dose levothyroxine treatment. J Clin Endocrinol Metab. Jan 1996;81(1):222-7. [Medline].

  10. Dussault JH. Childhood primary hypothyroidism and endemic cretinism. Curr Ther Endocrinol Metab. 1997;6:107-9. [Medline].

  11. Dussault JH. The anecdotal history of screening for congenital hypothyroidism. J Clin Endocrinol Metab. Dec 1999;84(12):4332-4. [Medline].

  12. Fisher DA. The importance of early management in optimizing IQ in infants with congenital hypothyroidism. J Pediatr. Mar 2000;136(3):273-4. [Medline].

  13. Fisher DA, Schoen EJ, La Franchi S, et al. The hypothalamic-pituitary-thyroid negative feedback control axis in children with treated congenital hypothyroidism. J Clin Endocrinol Metab. Aug 2000;85(8):2722-7. [Medline].

  14. Franceschi R, Camilot M, Teofoli F. Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes. Clin Endocrinol (Oxf). 2005;63:146-151. [Medline].

  15. Garcia-Filion P, Epport K, Nelson M, et al. Neuroradiographic, endocrinologic, and ophthalmic correlates of adverse developmental outcomes in children with optic nerve hypoplasia: a prospective study. Pediatrics. 2008;121:e653-9. [Medline].

  16. Glinoer D, Delange F. The potential repercussions of maternal, fetal, and neonatal hypothyroxinemia on the progeny. Thyroid. Oct 2000;10(10):871-87. [Medline].

  17. Gruneiro-Papendieck L, Chiesa A, Mendez V. Efficacy of congenital hypothyroidism neonatal screening in preterms less than 32 weeks of gestational age: more evidence. J Pediatr Endocrinol Metab. 2005;18:373-377. [Medline].

  18. Guarnieri GF, Laforgia N, Mautone A, Balducci G. Delayed closure of ductus arteriosus in term newborns with congenital hypothyroidism: effect of L-thyroxine therapy. Pediatr Cardiol. 2008;29:455-6. [Medline].

  19. Haddow JE, Palomaki GE, Allan WC, et al. Maternal thyroid deficiency during pregnancy and subsequent neuropsychological development of the child. New England Journal of Medicine. 1999;341(8):549-555. [Medline].

  20. Hanukoglu A, Perlman K, Shamis I, et al. Relationship of etiology to treatment in congenital hypothyroidism. J Clin Endocrinol Metab. Jan 2001;86(1):186-91. [Medline].

  21. Hardy O, Worley G, Lee MM, et al. Hypothyroidism in Down syndrome: screening guidelines and testing methodology. Am J Med Genet A. 2004;124:436-7. [Medline].

  22. Hashimoto K, Curty FH, Borges PP, et al. An unliganded thyroid hormone receptor causes severe neurological dysfunction. Proc Natl Acad Sci U S A. Mar 27 2001;98(7):3998-4003. [Medline].

  23. Hopwood NJ, Kelch RP. Thyroid masses: approach to diagnosis and management in childhood and adolescence. Pediatr Rev. Dec 1993;14(12):481-7. [Medline].

  24. Hsiao PH, Chiu YN, Tsai WY, et al. Intellectual outcome of patients with congenital hypothyroidism detected by neonatal screening. J Formos Med Assoc. Jan 2001;100(1):40-4. [Medline].

  25. 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].

  26. Ishikawa N, Eguchi K, Ohmori T, et al. Defective organification of iodide causing congenital goitrous hypothyroidism. J Clin Endocrinol Metab. Jan 1996;81(1):376-83. [Medline].

  27. Kempers MJ, van Trotsenburg AS, van Rijn RR, et al. Loss of integrity of thyroid morphology and function in children born to mothers with inadequately treated Graves' disease. J Clin Endocrinol Metab. 2007;92:2984-91. [Medline].

  28. Kordonouri O, Hartmann R, Riebel T, Liesenkoetter KP. Early treatment with L-thyroxine in children and adolescents with type 1 diabetes, positive thyroid antibodies, and thyroid gland enlargement. Pediatr Diabetes. 2007;8:180-4. [Medline].

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

  30. LaFranchi S. Thyroid function in the preterm infant. Thyroid. Jan 1999;9(1):71-8. [Medline].

  31. Lomenick JP, El-Sayyid M, Smith WJ. Effect of levo-thyroxine treatment on weight and body mass index in children with acquired hypothyroidism. J Pediatr. 2008;152:96-100. [Medline].

  32. McElduff A, McElduff P, Wiley V. Neonatal TSH as measured in a congenital hypothyroidism screening program: influence of the mode of delivery. J Clin Endocrinol Metab. 2005;[Medline].

  33. Morreale de Escobar G, Obregon MJ, Escobar del Rey F. Is neuropsychological development related to maternal hypothyroidism or to maternal hypothyroxinemia?. J Clin Endocrinol Metab. Nov 2000;85(11):3975-87. [Medline].

  34. Muller AF, Berghout A, Wiersinga WM, Kooy A, Smits JW, Hermus AR. Thyroid function disorders - Guidelines of the Netherlands Association of Internal Medicine. Neth J Med. 2008;66:134-42. [Medline].

  35. Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet. 2005;42:379-389. [Medline].

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

  37. Ruiz M, Rajatanavin R, Young RA, et al. Familial dysalbuminemic hyperthyroxinemia: a syndrome that can be confused with thyrotoxicosis. N Engl J Med. 1982;306:635-9. [Medline].

  38. Sakata S, Matsuda M, Ogawa T, et al. Prevalence of thyroid hormone autoantibodies in healthy subjects. Clin Endocrinol (Oxf). Sep 1994;41(3):365-70. [Medline].

  39. Sbrocchi AM, Chédeville G, Scuccimarri R, Duffy CM, Krishnamoorthy P. Pediatric hypothyroidism presenting with a polymyositis-like syndrome and increased creatinine: report of three cases. J Pediatr Endocrinol Metab. 2008;21:89-92. [Medline].

  40. Screening for congenital hypothyroidism: US Preventive Services Task Force reaffirmation recommendation. Ann Fam Med. 2008;6:166. [Medline].

  41. Topaloglu AK. Athyreosis, dysgenesis, and dyshormonogenesis in congenital hypothyroidism. Pediatr Endocrinol Rev. 2006;3 Suppl 3:498-502. [Medline].

  42. van der Sluijs Veer L, Kempers MJ, Last BF, Vulsma T, Grootenhuis MA. Quality of life, developmental milestones, and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening. J Clin Endocrinol Metab. May 6 2008;[Medline].

  43. van Tijn DA, de Vijlder JJ, Verbeeten B Jr. Neonatal detection of congenital hypothyroidism of central origin. J Clin Endocrinol Metab. 2005;90:3350-3359. [Medline].

  44. Van Vliet G. Neonatal hypothyroidism: treatment and outcome. Thyroid. Jan 1999;9(1):79-84. [Medline].

  45. Veasey SC, Guilleminault C, Strohl KP, Sanders MH, Ballard RD, Magalang UJ. Medical therapy for obstructive sleep apnea: a review by the Medical Therapy for Obstructive Sleep Apnea Task Force of the Standards of Practice Committee of the American Academy of Sleep Medicine. Sleep. 2006;29:1036-44. [Medline].

  46. 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].

  47. Vigone MC, Fugazzola L, Zamproni I. Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. Hum Mutat. 2005;26:395. [Medline].

  48. Woeber KA. Subclinical thyroid dysfunction. Arch Intern Med. May 26 1997;157(10):1065-8. [Medline].

  49. Working Group on Neonatal Screening of the European Society for Paediatric Endo. Revised guidelines for neonatal screening programmes for primary congenital hypothyroidism. Horm Res. 1999;52(1):49-52. [Medline].

  50. Zamproni I, Grasberger H, Cortinovis F, et al. Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab. 2008;93:605-10. [Medline].

 
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