Cytomorphologic analysis of dyshormonogenetic goiter

Diagn Cytopathol. 2021 Nov;49(11):E415-E418. doi: 10.1002/dc.24836. Epub 2021 Jul 20.

Abstract

Dyshormonogenetic goiter is a rare cause for congenital hypothyroidism because of the lack of enzymes needed for the synthesis of thyroid hormones. They are usually treated with hormonal treatment. Cytomorphological features can lead to misdiagnosis of malignancy. Elaboration on the cytomorphological features of dyshormonogenetic goiter is scarce, with only four case reports in the literature. We present a case of a child with dyshormonogenetic goiter, highlighting its cytological features, and common differential diagnosis. We also compared cytomorphologic features with other cases reported in the literature.

Keywords: aspiration cytology; dyshormonogenetic goiter; thyroid.

Publication types

  • Case Reports

MeSH terms

  • Carcinoma, Papillary / pathology*
  • Child
  • Congenital Hypothyroidism / diagnosis
  • Congenital Hypothyroidism / pathology*
  • Congenital Hypothyroidism / surgery
  • Diagnosis, Differential
  • Goiter / diagnosis
  • Goiter / pathology*
  • Goiter / surgery
  • Humans
  • Thyroid Gland / pathology
  • Thyroid Neoplasms / diagnosis
  • Thyroid Neoplasms / pathology*
  • Thyroidectomy / methods