Thyroid dysgenesis in monozygotic twins: Variants identified by scintigraphy

McLean, Richard G.; Howard, N.; Murray, I. P. C.

doi:10.1007/bf00251309

Cited by 43 publications

(25 citation statements)

References 14 publications

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“…Spectrum of clinical presentation occurred in a same family, with one member having hemithyroid and the other affected family members displaying either THG (in one family), ectopic thyroid (in four families), athyreosis (in one family), or thyroglossal duct cysts (in two families). Familial clustering of THG and ectopic thyroid has been previously reported, including affected monozygotic twin brothers (9,(32)(33)(34), which might suggest sharing pathogenic mechanisms between these two forms of TD. Congruent with this possibility was a report of one patient who had both THG and a small ectopic sublingual thyroid gland (35).…”

Section: Familial Factors In Thyroid Hemiagenesismentioning

confidence: 89%

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

et al. 2005

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Section: Familial Factors In Thyroid Hemiagenesismentioning

confidence: 89%

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

et al. 2005

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“…[32][33][34] Interestingly, both hemiagenesis and ectopic thyroid tissue resembling the present findings may occur in the same patients. [35][36][37] The possible contribution of impaired Shh activity to this phenotype in humans remains to be investigated. However, there are pieces of circumstantial evidence suggesting that this might be the case.…”

Section: Discussionmentioning

confidence: 99%

“…Sections were prepared with 35 S-UTP-labeled anti-sense riboprobes as described. 27 A HindIII-linearized 642-bp mouse Shh template in pBSK 28 and a BamHI-linearized 841-bp mouse Ptc1 template in pBSK 29 were transcribed with T3 RNA polymerase to generate anti-sense probes.…”

Section: Immunohistochemistry and In Situ Hybridizationmentioning

confidence: 99%

Genetic Deletion of Sonic Hedgehog Causes Hemiagenesis and Ectopic Development of the Thyroid in Mouse

Fagman

Grände

Gritli-Linde

et al. 2004

The American Journal of Pathology

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Thyroid dysgenesis encountered in 85% of patients with congenital hypothyroidism is a morphologically heterogeneous condition with primarily unknown pathogenesis. Here we identify sonic hedgehog (Shh) as a novel regulator of thyroid development. In Shh knockout mice the thyroid primordium is correctly specified in the pharyngeal endoderm, but budding and dislocation are slightly delayed. In late development the thyroid fails to form a bilobed gland. Instead a single thyroid mass is found unilaterally and mostly to the left of the midline. Thyroid-specific transcription factors (TTF-1 and TTF-2) and thyroglobulin are expressed indicating terminal differentiation. Strikingly, TTF-1-and TTF-2-positive cells aberrantly develop in the presumptive trachea of Shh؊/؊ embryos. The ectopic tissue buds ventrolaterally into the adjacent mesenchyme, and less extensively into the tracheal lumen, forming follicle-like structures that accumulate thyroglobulin. Shh mRNA is not expressed in the thyroid precursor cells at any developmental stage. The results indicate that Shh signaling indirectly governs the symmetric bilobation of the thyroid during late organogenesis. Shh also seems to repress inappropriate thyroid differentiation in nonthyroid embryonic tissues. This study provides clues to the molecular mechanisms that might be dysregulated in thyroid hemiagenesis and development of ectopic thyroid tissue outside the thyroglossal duct.

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“…No significant compensatory growth of the existing lobe in its normal anatomic localization in many patients suggests that the main problem is a lobulation defect rather than a descent disturbance. One aspect seems to be a genetic one, because this rare disorder occurred in monozygotic twins [38], among sisters [39], or together with other thyroid malformations within one family [40,41]. Recently several genes have been found to be involved in thyroid morphogenesis and descent.…”

Section: Discussionmentioning

confidence: 99%

Thyroid Hemiagenesis with Multinodular Goiter: A Case Report and Review of the Literature

Karabay¹,

Çömlekçi

Canda

et al. 2003

Endocr J

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Abstract. Thyroid hemiagenesis is a very rare abnormality, in which one thyroid lobe fails to develop. Most of the patients diagnosed have an associated thyroidal disease. The true prevalence of thyroid hemiagenesis is not known, but it is estimated to be 0.02% in normal children. We report a forty-five year-old female patient with a multinodular goiter in left lobe, associated with hemiagenesis of right lobe and isthmus. CaseA 45-year-old female patient was presented with long-standing, painless, palpable left thyroid mass. She was clinically euthyroid, and had a palpable left lobe (Grade 1b) associated with probable 2 cm thyroid nodule in the lower pole of the left lobe. The rest of the physical examination was unremarkable. Her serum free T3, free T4, TSH, antithyroglobulin antibody, antimicrosomal antibody levels were 2.5 pg/ml (normal range: 2.3-4.2), 1.3 ng/ml (normal range: 0.8-1.5), 0.89 mIU/ml (normal range: 0.5-5.5), 20 IU/ml (normal range: 0-50), and 19 IU/ml (normal range: 0-50) respectively. As shown in Fig. 1, thyroid scintigraphy with Tc-99 m pertechnetate revealed the absence of right lobe and isthmus and a hypoactive nodule in the lower pole of left lobe. Ultrasonography confirmed the right lobe and the isthmus agenesis (Fig. 2). Ultrasonography revealed a left lobe (25 × 22 × 67 mm) with multiple nodules (Fig. 3). The dominant nodule was a degenerated cystic nodule in the lower pole of left lobe (20 × 22 × 25 mm). Fine needle aspiration biopsy revealed a degenerated colloidal nodule.

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Thyroid dysgenesis in monozygotic twins: Variants identified by scintigraphy

Cited by 43 publications

References 14 publications

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

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

Genetic Deletion of Sonic Hedgehog Causes Hemiagenesis and Ectopic Development of the Thyroid in Mouse

Thyroid Hemiagenesis with Multinodular Goiter: A Case Report and Review of the Literature

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