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

Abstract

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.

Spontaneous primary hypothyroidism in 7 adult cats

“…A severe defect will lead to neonatal or congenital hypothyroidism, goiter, mental retardation, and growth abnormalities (cretinism), similar to many of the reported hypothyroid kittens . Milder forms of congenital dyshormonogenesis can present later in life (ie, adolescence or young adulthood) as goiter and minimal, if any, signs of thyroid dysfunction . Such milder or partial defects in thyroid hormone production could explain the pathophysiology in our 6 goitrous cats, in which goiter was one of the major reasons for work‐up and few overt clinical signs of thyroid disease were present.…”

Cytological features of dyshormonogenetic goitre: A diagnostic pitfall

“…There may also be foci of papillary hyperplasia, and mitotic activity, which may also lead to over‐diagnosis. Rarely, DG may present as nodular thyroid swelling in an unsuspected euthyroid adult, as seen in the report by Perry et al, in which case presence of atypia on cytology may be worrisome. Coexistence of malignancy in DG can further complicate the issue.…”

“…To date, there are only three publications describing the cytological features of four cases of DG . Typically, the smears are hypercellular, with cells arranged as syncytial fragments, cohesive clusters and microfollicles.…”

Maternal-Fetal Thyroid Interactions

“…about the developmental thyroid hormone mechanisms (deiodinases, transporters, sulfotransferases and receptors) in human [1,2,50,52,127,130,[151][152][153][154], rat [1,2,41,60,135,[154][155][156] and chicken [7,[157][158][159][160][161][162][163][164][165][166][167][168][169][170]. Note that the chicken is born early compared to the rat and human, as well as the rat is born early compared to the human (Table 6).…”

“…Some of these genes only respond to thyroid status for a short and specific period during development, a feature that is typical for many TH target genes in brain [122]. Interestingly, a reduction or absence of TH during brain maturation yields molecular, morphological and functional alterations in the cerebral cortex, hippocampus and cerebellum [123][124][125][126][127][128][129][130][131][132].…”