Thyroid Hemiagenesis Is a Rare Variant of Thyroid Dysgenesis with a Familial Component but without Pax8 Mutations in a Cohort of 22 Cases

Castanet, Mireille; Leenhardt, Laurence; Léger, Juliane; Simon-Carre, Aurore; Lyonnet, Stanislas; Pelet, Anna; Czernichow, P; Polak, Michel

doi:10.1203/01.pdr.0000161409.04177.36

Cited by 48 publications

(30 citation statements)

References 38 publications

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“…In the study by Castanet et al, the largest series so far of 22 cases with THA was reported; however, patients with marked hypoplasia of one of the thyroid lobes were included as well. The only concomitant thyroid abnormalities described in this largely pediatric cohort were nodules and cysts, while immunological tests were not performed (19). The latest study of 14 subjects by Gursoy et al revealed the presence of associated thyroid pathology in nine patients, of whom four patients were diagnosed with Hashimoto's thyroiditis, four patients with a nontoxic multinodular goiter, and one patient with toxic adenoma (16).…”

Section: Discussionmentioning

confidence: 80%

Increased risk of thyroid pathology in patients with thyroid hemiagenesis: results of a large cohort case–control study

Ruchała

Szczepanek

Szaflarski

et al. 2010

European Journal of Endocrinology

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Objective: Thyroid hemiagenesis (THA) is an anomaly resulting from the developmental failure of one thyroid lobe. Etiopathogenesis, clinical significance, and management of patients in whom THA is diagnosed are still a matter of debate. The aim of the study is to provide the first systematic analysis of a large cohort of subjects with THA. Design: Forty patients with THA are described in comparison to a control group of 80 subjects with fully developed thyroid gland. Methods: Serum concentrations of thyrotropin (TSH), free thyroxine (FT 4 ), free triiodothyronine (FT 3 ), and thyroid autoantibodies were measured. In 37 patients, thyroid ultrasonography and Tc-99m thyroid scintiscan were performed, followed by fine-needle aspiration biopsy if indicated. The remaining archival three cases were diagnosed with the use of I-131 scintiscan under basal conditions and after TSH stimulation. Results: Patients with THA, while usually clinically euthyroid, presented with significantly higher levels of TSH and FT 3 as well as with higher FT 3 /FT 4 concentration in comparison to the control group. Furthermore, a higher incidence of associated functional, morphological, and autoimmune thyroid disorders in patients with THA was observed when compared to subjects with bilobate thyroid (P!0.05). Conclusions: Our results revealed that individuals with THA are more likely to develop thyroid pathology. The observed high incidence of associated pathologies is presumably due to long-lasting TSH overstimulation. Therefore, THA diagnosis should be followed by systematic observation and adequate levothyroxine treatment in patients with elevated TSH level.

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Section: Discussionmentioning

confidence: 80%

Increased risk of thyroid pathology in patients with thyroid hemiagenesis: results of a large cohort case–control study

Ruchała

Szczepanek

Szaflarski

et al. 2010

European Journal of Endocrinology

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“…In 10 cases the thyroid was not visualized by T-US, probably due to dysgenesis. Among the 31 cases of topic thyroid, 21 had normal or increased volume for age, probably due to dyshormonogenesis, 7 had topic thyroid with reduced volume, configuring thyroid hypoplasia, one case showed central hypothyroidism, one case had transient hyperthyrotropinemia and one case had left lobe hemiagenesis, a rare variant of dysgenesis (18). However, to attain a secure diagnosis, the T-US should be performed as soon as possible, and not much later as it was done, after long-term use of thyroid hormone (2).…”

Section: Discussionmentioning

confidence: 99%

Timing of thyroid ultrasonography in the etiological investigation of congenital hypothyroidism

Borges

Sedassari

et al. 2017

Arch. Endocrinol. Metab.

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Objectives: To describe the findings of thyroid ultrasonography (T-US), its contribution to diagnose congenital hypothyroidism (CH) and the best time to perform it. Subjects and methods: Forty-four patients with CH were invited to undergo T-US and 41 accepted. Age ranged from 2 months to 45 years; 23 patients were females. All were treated with L-thyroxine; 16 had previously undergone scintigraphy and 30 had previous T-US, which were compared to current ones. Results: At the current T-US, the thyroid gland was not visualized in its normal topography in 10 patients (24.5%); 31 T-US showed topic thyroid, 17 with normal or increased volume due to probable dyshormonogenesis, 13 cases of hypoplasia and one case of left-lobe hemiagenesis. One patient had decreased volume due to central hypothyroidism. Scintigraphy scans performed 3-4 years earlier showed 100% agreement with current results. Comparisons with previous T-US showed concordant results regarding thyroid location, but a decrease in current volume was observed in eight due to the use of L-thyroxine, calling the diagnosis of hypoplasia into question. Conclusions: The role of T-US goes beyond complementing scintigraphy results. It allows inferring the etiology of CH, but it must be performed in the first months of life. An accurate diagnosis of CH will be attained with molecular study and the T-US can guide this early assessment, without therapy withdrawal. Arch Endocrinol Metab. 2017;61(5):432-7

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“…Thus, incidentally diagnosed thyroid hemiagenesis should likely prompt an increased awareness of disturbed thyroid function later in life (Maiorana et al, 2003). That hemiagenesis should be considered a variant of dysgenesis is indicated by the finding of a familial association with other developmental malformations as ectopic thyroid and athyreosis (Castanet et al, 2005). This observation further suggests that different types of thyroid dysgenesis might share a common pathogenetic mechanism producing a variable phenotype.…”

Section: Clinical Features Of Thyroid Hemiagenesismentioning

confidence: 99%

Morphogenesis of the thyroid gland

Fagman

Nilsson

2010

Molecular and Cellular Endocrinology

130

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Congenital hypothyroidism is mainly due to structural defects of the thyroid gland, collectively known as thyroid dysgenesis. The two most prevalent forms of this condition are abnormal localization of differentiated thyroid tissue (thyroid ectopia) and total absence of the gland (athyreosis). The clinical picture of thyroid dysgenesis suggests that impaired specification, proliferation and survival of thyroid precursor cells and loss of concerted movement of these cells in a distinct spatiotemporal pattern are major causes of malformation. In normal development the thyroid primordium is first distinguished as a thickening of the anterior foregut endoderm at the base of the prospective tongue. Subsequently, this group of progenitors detaches from the endoderm, moves caudally and ultimately differentiates into hormone-producing units, the thyroid follicles, at a distant location from the site of specification. In higher vertebrates later stages of thyroid morphogenesis are characterized by shape remodelling into a bilobed organ and the integration of a second type of progenitors derived from the caudal-most pharyngeal pouches that will differentiate into C-cells. The present knowledge of thyroid developmental dynamics has emerged from embryonic studies mainly in chicken, mouse and more recently also in zebrafish. This review will highlight the key morphogenetic steps of thyroid organogenesis and pinpoint which crucial regulatory mechanisms are yet to be uncovered. Considering the coincidence of thyroid dysgenesis and congenital heart malformations the possible interactions between thyroid and cardiovascular development will also be discussed.

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Thyroid Hemiagenesis Is a Rare Variant of Thyroid Dysgenesis with a Familial Component but without Pax8 Mutations in a Cohort of 22 Cases

Cited by 48 publications

References 38 publications

Increased risk of thyroid pathology in patients with thyroid hemiagenesis: results of a large cohort case–control study

Increased risk of thyroid pathology in patients with thyroid hemiagenesis: results of a large cohort case–control study

Timing of thyroid ultrasonography in the etiological investigation of congenital hypothyroidism

Morphogenesis of the thyroid gland

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