Congenital Goiter Found in a District of Omuro, Kochi, Shikoku, Japan: Morphological Study

Tezuka, Uichiro; Murakami, Tsuyoshi; Mishiro, Kunio; Fujino, Masaaki; Takeichi, Osamu

doi:10.1507/endocrj1954.18.281

Cited by 4 publications

(1 citation statement)

References 6 publications

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“…Although the adult patient did not present with aberrant laboratory values of T3, T4 or TSH, it should be remembered that euthyroid patients have been reported as having mutations in the thyroglobulin gene, which can reduce synthesis or secretion, and can sometimes allow patients to compensate in an environment of adequate iodine supply . Interestingly, approximately 40 years ago, the increased incidence of goiter in the Japanese community of Omuro was assessed morphologically and by electron microscopically, which suggested possible defects in hormone formation . Many decades later, mutations in the thyroglobulin gene were found in patients of this community.…”

Section: Discussionmentioning

confidence: 98%

Dyshormonogenetic goiter‐like changes in a child with congenital hypothyroidism and a euthyroid adult

Perry

Hope

Yang

2012

Diagnostic Cytopathology

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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.

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Section: Discussionmentioning

confidence: 98%