Cytomorphologic analysis of dyshormonogenetic goiter

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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.

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Dyshormonogenetic goitre, being rare, infrequently reaches the cytopathologist's desk. This letter reports a case of a child with dyshormonogenetic goitre, highlighting its cytological features and common differential diagnosis. Dyshormonogenetic goitre (DG) is a rare cause of congenital hypothyroidism, resulting from lack of enzymes necessary for biosynthesis/ transport of thyroid hormones. This article is protected by copyright. All rights reserved.
A retrospective morphological and immunohistochemical study of 21 cases of dyshormonogenetic goiter was carried out correlating patterns of hyperplasia and the atypias of the glandular tissues with specific defects in hormonal synthesis, including (1) thyroglobulin synthesis defect (Group I, n = 8); (2) defective organification of iodide (Group II, n = 11); and (3) iodide transport defect (Group III, n = 2). Microfollicular, trabecular, papillary, and oxyphilic cell patterns were more frequent in Group II compared with Group I (Group III was excluded because of the small number of cases). The combined microfollicular and trabecular patterns were more frequently seen in patients in Group II. Two cases of thyroglobulin synthesis defect demonstrated certain morphological specificity characterized by an alveolar pattern. Atypias were more frequent and severe in patients in Group II relative to patients in Group I, but features of malignancy were not found in any patients. Immunohistochemical study using thyroglobulin antiserum demonstrated correlation between morphology and positivity of follicular cells. Scarce C cells were verified in these cases by immunohistochemistry. Using two-paired samples, respectively, of 21 endemic and 21 dyshormonogenetic goiters, we distinguished 85.7% of the cases examined, presented in a double-blind fashion. Scarcity of colloid and prominent cellular atypia were highly suggestive of dyshormonogenetic goiter. Considering the relative rarity of dyshormonogenetic goiter, our studies point out the most common patterns of hyperplasia and atypias in this pathology to avoid misdiagnosis, principally when considering the possibility of malignancy.
Dyshormonogenetic goiter is a rare entity that presents in patients who typically have a history of congenital hypothyroidism, and generally arises from a genetic mutation compromising the production of functional thyroxine or thyroglobulin. Clinically, physical manifestations of goiter can result if left untreated. Histologically, the thyroid lesions usually show prominent bridging fibrosis, multiple thyroid nodules with different architectures, microfollicular arrangement, scant colloid, and enlarged vesicular or hyperchromatic nuclei. Cytologically, the features of the lesion are not distinguishable from follicular lesion and follicular neoplasm. We describe two patients exhibiting similar histological and cytological features resembling dyshormonogenetic goiter with cytologic misinterpretation as follicular neoplasm. One was a child with an established history of congenital hypothyroidism. The other was an adult euthyroid patient who presented with an associated parathyroid adenoma. These findings further affirm that cytologically and histologically, morphologic features associated with dyshormonogenetic goiter can also be found in patients without a history of congenital hypothyroidism. Cytopathol. 2012; © 2012 Wiley Periodicals, Inc.
The fine needle aspiration (FNA) cytologic findings along with histology and MIB-1 proliferative index in a case of dyshormonogenetic goitre is presented. A 12-year old female child from non-endemic zone presented with a isotopically cold solitary thyroid nodule with a history of goitre being present since birth. Past history of any neck irradiation or maternal ingestion of any goitrogen during the antenatal period and family history of goitre were negative. FNA cytology revealed an extremely cellular preparation with predominantly microfollicular pattern without colloid. Nuclei were round to oval, slightly enlarged with evenly distributed chromatin and inconspicuous nucleoli. Larger tissue fragments also showed foci of solid cell groups with nuclear crowding, overlapping and loss of polarity in addition to the prevalent microfollicular pattern. Occasional tissue fragments showed solid groups of trapped follicular epithelial cells in the matrix of fibrocollagenous tissue. Histology showed an intensely hyperplastic follicular cells with nodule formation, irregular fibrosis, pseudo capsular or vascular wall invasion mimicking malignancy. Immunohistochemistry for calcitonin was negative but thyroglobulin was positive. MIB-1 (Ki-67) proliferation index varied from 0.05 to 0.26 (mean 0.13) in the hyperplastic nodules versus 0.9 to 2.1 (mean 1.34) in the hyperplastic solid microfoci scattered amidst the grossly normal appearing thyroid tissue. The possible cytologic diagnostic pitfalls in favor of follicular neoplasm is discussed.
Dyshormonogenetic goiters (DG) are genetically determined thyroid hyperplasias due to enzyme defects in thyroid-hormone synthesis. We report 56 cases of DG occurring in 34 females and 22 males. The patients age ranged from newborn to 52 yr (median 16), 75% of the cases occurring before the age of 24. All patients presented with clinically evidence of goiter except for two patients that were diagnosed at autopsy. Hypothyroidism was documented before the histological diagnosis was made in 36 patients (64%). The thyroid gland was enlarged and multinodular in all cases, weighing up to 600g. Microscopically, the most common alteration consisted of markedly cellular nodules exhibiting a variety of architectural appearances, the solid and/or microfollicular patterns predominating. Papillary proliferations and an insular growth pattern were also present. Fibrosis was a common finding; in some instances it was very conspicuous, resulting in irregularities at the edge of the nodules simulating capsular invasion. Other constant features included marked nuclear atypia and minimal amount of colloid. In 18% of the cases, the degree of hyperplasia and atypia were such as to result in a mistaken diagnosis of follicular, papillary, medullary, or undifferentiated carcinoma. Three of the glands contained incidental small neoplasms fulfilling the criteria of papillary microcarcinoma; one of them was multicentric. The presence in a thyroid gland of the combination of these morphologic features should suggest the diagnosis of dyshormonogenetic goiter. The only other condition we are aware of that can result in a similar microscopic picture is iatrogenic goiter resulting from the administration of antithyroidal agents.
Dyshormonogenetic goiter is a rare cause of congenital goiter occurring due to a lack of enzymes necessary for the synthesis of thyroid hormones. We present a case of dyshormonogenetic goiter diagnosed on cytology. Correlation with the history, clinical findings, levels of thyroid hormones and other investigations is imperative for the diagnosis. The degree of hyperplasia is severe enough to prompt a diagnosis of malignancy, particularly follicular neoplasm. An accurate diagnosis helps to constitute proper therapy and prevents surgery.
Geraldo medelros‐neto. Dyshormonogenetic goiter: morphological and IHC study
  • P Smatos
  • H Besi