Pathology and Cytology of Thyroid Diseases in Pediatric Population

  • Suna Erkılıç


Thyroid diseases are rarely seen in childhood and are similar to thyroid diseases seen in adults.

The major diseases encountered during childhood are Hashimoto thyroiditis, Graves’ disease, and multinodular or adenomatous goiter. Palpable thyroid nodules are present in 1.5% of child population. Palpable or nonpalpable thyroid nodules may be either of benign or malignant nature. The benign nodules may be solitary nodule or follicular adenoma, multinodular goiter (MNG), toxic MNG, nodules on Graves’ disease background, and dyshormonogenetic goiter. Malignant nodules may be follicular cell origin, such as papillary, follicular, poorly differentiated, and undifferentiated carcinoma, but may also be medullary thyroid carcinoma of C cell origin. Dyshormonogenetic goiter is another disease presenting with thyroid nodules caused by autosomal recessive inherited defects of thyroid hormone synthesis. Fine needle aspiration (FNA) of dyshormonogenetic goiter demonstrates similar characteristics to follicular neoplasia and follicular variant papillary thyroid carcinoma or noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) and should be included in the differential diagnosis of fine needle aspiration examination of thyroid nodules in the pediatric population.

Since thyroid disease has the same cytological findings in adults and pediatric population, cytological and histopathological features and differential diagnosis of dyshormonogenetic goiter which is more common to childhood are discussed at length.


Pediatric Thyroid Goiter Dyshormonogenetic goiter FNA Cytology Thyroid carcinoma Toxic adenoma Immunohistochemistry 


  1. 1.
    Hicks J. Pancreas, adrenal, thyroid, parathyroid, and selected head and neck. In: Husain AN, editor. Biopsy interpretation of pediatric lesions. South Holland: Wolters Kluwer; 2014. p. 297–305.Google Scholar
  2. 2.
    Corrias A, Mussa A. Thyroid nodules in pediatrics: which ones can be left alone, which ones must be investigated, when and how. J Clin Res Pediatr Endocrinol. 2013;5(suppl 1):57–69.PubMedPubMedCentralGoogle Scholar
  3. 3.
    Niedziela M. Pathogenesis, diagnosis and management of thyroid nodules in children. Endocr Relat Cancer. 2006;13:427–53.CrossRefGoogle Scholar
  4. 4.
    Amrikachi M, Ponder TB, Wheeler TM, Smith D, Ramzy I. Thyroid fine-needle aspiration biopsy in children and adolescents: experience with 218 aspirates. Diagn Cytopathol. 2005;32(4):189–92.CrossRefGoogle Scholar
  5. 5.
    Erkilic S, Sadullaoglu C. Sitolojik yöntemler. In: Onal B, editor. Sitopatoloji: Quintessence; 2016. p. 497–515.Google Scholar
  6. 6.
    Kiratli PO, Volkan-Salanci B, Günay EC, Varan A, Akyüz C, Büyükpamukçu M. Thyroid cancer in pediatric age group: an institutional experience and review of the literature. J Pediatr Hematol Oncol. 2013;35(2):93–7.CrossRefGoogle Scholar
  7. 7.
    Balachandar S, La Quaglia M, Tuttle RM, Heller G, Ghossein RA, Sklar CA. Pediatric differentiated thyroid carcinoma of follicular cell origin: prognostic significance of histologic subtypes. Thyroid. 2016;26(2):219–26.CrossRefGoogle Scholar
  8. 8.
    Vuong HG, Kondo T, Oishi N, Nakazawa T, Mochizuki K, Miyauchi A, Hirokawa M. KatohR. Paediatric follicular thyroid carcinoma indolent cancer with low prevalence of RAS mutations and absence of PAX8-PPARG fusion in a Japanese population. Histopathology. 2017;71(5):760–8.CrossRefGoogle Scholar
  9. 9.
    Yu Z, Parham DM, Kukreja MK. Pediatric cancer in the head and neck. In: Parham DM, Khoury JD, McCarville MB, editors. Pediatric malignancies: pathology and imaging. New York: Springer; 2015. p. 203–26.Google Scholar
  10. 10.
    Biddinger PW. Diffuse and nodular hyperplasia. In: Nikiforov YE, Biddinger PW, Thompson LDR, editors. Diagnostic pathology and molecular genetics of the thyroid: a Comprehensive guide for practicing thyroid pathology. 2nd ed. Philadelphia: Lippincott Williams&Wilkins; 2012. p. 60–81.Google Scholar
  11. 11.
    Castanet M, Polak M, Bonaïti-Pellié C, Lyonnet S, Czernichow P, Léger J. Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab. 2001;86(5):2009–14.CrossRefGoogle Scholar
  12. 12.
    Baloch ZW, LiVolsi VA. Pathology of thyroid gland. In: LiVolsi VA, Asa SL, editors. Endocrine pathology. New York: Churchill Livingstone; 2002. p. 61–101.Google Scholar
  13. 13.
    Tong GX, Chang Q, Hamele-Bena D, Carew J, Hoffman RS, Nikiforova MN, Nikiforov YE. Targeted next-generation sequencing analysis of a Pendred syndrome-associated thyroid carcinoma. Endocr Pathol. 2016;27(1):70–5.CrossRefGoogle Scholar
  14. 14.
    Ghossein RA, Rosai J, Heffess C. Dyshormonogenetic Goiter: a Clinicopathologic Study of 56 Cases. Endocr Pathol. 1997;8(4):283–92.CrossRefGoogle Scholar
  15. 15.
    Thompson LDR. Non-neoplastic lesions of the thyroid gland. In: Thompson LDR, editor. Endocrine pathology. New York: Churchill Livingstone; 2006. p. 1–50.Google Scholar
  16. 16.
    Erkiliç S, Koçer NE. The role of cytokeratin 19 in the differential diagnosis of true papillary carcinoma of thyroid and papillary carcinoma-like changes in Graves’ disease. Endocr Pathol. 2005;16(1):63–6.CrossRefGoogle Scholar
  17. 17.
    Erkiliç S, Aydin A, Koçer NE. Diagnostic utility of cytokeratin 19 expression in multinodular goiter with papillary areas and papillary carcinoma of thyroid. Endocr Pathol. 2002;13(3):207–11.CrossRefGoogle Scholar
  18. 18.
    Wenig BM. Atlas of head and neck pathology. 3rd ed. Philadelphia: Elsevier; 2016. p. 1286–9.Google Scholar

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© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Suna Erkılıç
    • 1
  1. 1.Faculty of Medicine, Department of PathologyGaziantep UniversityGaziantepTurkey

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