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Journal articles on the topic 'Thyroid dysgenesis'

Author: Grafiati
Published: 4 June 2021
Last updated: 1 February 2022

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1

Kariyawasam, Dulanjalee, Latif Rachdi, Aurore Carré, et al. "DYRK1A BAC Transgenic Mouse: A New Model of Thyroid Dysgenesis in Down Syndrome." Endocrinology 156, no. 3 (2015): 1171–80. http://dx.doi.org/10.1210/en.2014-1329.

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Abstract The most common thyroid abnormality among Down syndrome (DS) children corresponds to a mildly elevated TSH, with T4 decreased or in the normal range and thyroid hypoplasia, from the neonatal period onward, which aggravate their mental impairment. Transgenic Dyrk1A mice, obtained by bacterial artificial chromosome engineering (mBACTgDyrk1A), have 3 copies of the Dyrk1A gene. The objective is to determine whether this transgenic Dyrk1A (Dyrk1A+/++) mouse is an adequate murine model for the study of thyroid dysgenesis in DS. Embryonic thyroid development from embryonic day 13.5 (E13.5) to E17.5 was analyzed in wild-type (WT) and Dyrk1A+/++ mice by immunofluorescence with anti-Nkx2–1, anti-thyroglobulin, and anti-T4 antibodies, markers of early thyroid development, hormonogenesis, and final differentiation, respectively. The expression of transcription factors Nkx2–1, Pax8, and Foxe1 involved in thyroidogenesis were studied by quantitative RT-PCR at the same embryonic stages. We then compared the adult phenotype at 8 to 12 weeks in Dyrk1A+/++ and WT mice for T4 and TSH levels, thyroidal weight, and histological analysis. Regarding thyroidal development, at E15.5, Dyrk1A+/++ thyroid lobes are double the size of WT thyroids (P = .01), but the thyroglobulin stained surface in Dyrk1A+/++ thyroids is less than a third as large at E17.5 (P = .04) and their differentiated follicular surface half the size (P = .004). We also observed a significant increase in Nkx2–1, Foxe1, and Pax8 RNA levels in E13.5 and E17.5 Dyrk1A+/++ embryonic thyroids. Dyrk1A+/++ young adult mice have significantly lower plasma T4 (2.4 ng/mL versus WT, 3.7 ng/mL; P = 0.019) and nonsignificantly higher plasma TSH (114 mUI/L versus WT, 73mUI/L; P = .09). In addition, their thyroids are significantly heavier (P = .04) and exhibit large disorganized regions. Dyrk1A overexpression directly leads to thyroidal embryogenetic, functional and morphological impairment. The young adult thyroid phenotype is probably a result of embryogenetic impairment. The Dyrk1A+/++ mouse can be considered a suitable study model for thyroid dysgenesis in DS.
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2

Kühnen, Peter, Serap Turan, Sebastian Fröhler, et al. "Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and “Apparent” Thyroid Dysgenesis." Journal of Clinical Endocrinology & Metabolism 99, no. 1 (2014): E169—E176. http://dx.doi.org/10.1210/jc.2013-2619.

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Context: Congenital hypothyroidism, the most frequent endocrine congenital disease, can occur either based on a thyroid hormone biosynthesis defect or can predominantly be due to thyroid dysgenesis. However, a genetic cause could so far only be identified in less than 10% of patients with a thyroid dysgenesis. Objectives: Exome sequencing was used for the first time to find additional genetic defects in thyroid dysgenesis. Patients and Methods: In a consanguineous family with thyroid dysgenesis, exome sequencing was applied, and findings were further validated by Sanger sequencing in a cohort of 94 patients with thyroid dysgenesis. Results: By exome sequencing we identified a homozygous missense mutation (p.Leu597Ser) in the SLC26A4 gene of a patient with hypoplastic thyroid tissue, who was otherwise healthy. In the cohort of patients with thyroid dysgenesis, we observed a second case with a homozygous missense mutation (p.Gln413Arg) in the SLC26A4 gene, who was additionally affected by severe hearing problems. Both mutations were previously described as loss-of-function mutations in patients with Pendred syndrome and nonsyndromic enlarged vestibular aqueduct. Conclusion: We unexpectedly identified SLC26A4 mutations that were hitherto diagnosed in thyroid dyshormonogenesis patients, now for the first time in patients with structural thyroid defects. This result resembles the historic description of thyroid atrophy in patients with the so-called myxedematous form of cretinism after severe iodine deficiency. Most likely the thyroid defect of the two homozygous SLC26A4 gene mutation carriers represents a kind of secondary thyroid atrophy, rather than a primary defect of thyroid development in the sense of thyroid agenesis. Our study extends the variable clinical spectrum of patients with SLC26A4 mutations and points out the necessity to analyze the SLC26A4 gene in patients with apparent thyroid dysgenesis in addition to the known candidate genes TSHR, PAX8, NKX2.1, NKX2.5, and FOXE1.
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3

Pimentel, Clebson Pantoja, Erik Artur Cortinhas-Alves, Edivaldo Herculano Correa de Oliveira, and Luiz Carlos Santana-da-Silva. "Does the Polymorphism in the Length of the Polyalanine Tract ofFOXE1Gene Influence the Risk of Thyroid Dysgenesis Occurrence?" Journal of Thyroid Research 2017 (2017): 1–6. http://dx.doi.org/10.1155/2017/2793205.

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Background.Recent data have suggested that polymorphisms in the length of the polyalanine tract (polyA) ofFOXE1gene may act as a susceptibility factor for thyroid dysgenesis. The main purpose of this study was to investigate the influence of polyA ofFOXE1gene on the risk of thyroid dysgenesis.Method.A case-control study was conducted in a sample of 90 Brazilian patients with thyroid dysgenesis and 131 controls without family history of thyroid disease. Genomic DNA was isolated from peripheral blood samples and the genotype of each individual was determined by automated sequencing.Results.More than 90% of genotypes found in the group of patients with thyroid dysgenesis and in controls subjects were represented by sizes 14 and 16 polymorphisms in the following combinations: 14/14, 14/16, and 16/16. Genotypes 14/16 and 16/16 were more frequent in the control group, while genotype 14/14 was more frequent in the group of patients with thyroid dysgenesis. There was no difference between agenesis group and control group. Genotype 14/14 when compared to genotypes 14/16 and 16/16A showed an association with thyroid dysgenesis.Conclusion.PolyA ofFOXE1gene alters the risk of thyroid dysgenesis, which may explain in part the etiology of this disease.
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4

Vono-Toniolo, Jussara, and Peter Kopp. "Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism." Arquivos Brasileiros de Endocrinologia & Metabologia 48, no. 1 (2004): 70–82. http://dx.doi.org/10.1590/s0004-27302004000100009.

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Congenital hypothyroidism affects about 1:3000-1:4000 infants. Screening programs now permit early recognition and treatment, thus avoiding the disastrous consequences of thyroid hormone deficiency on brain development. In about 85%, congenital hypothyroidism is associated with developmental defects referred to as thyroid dysgenesis. They include thyroid (hemi)agenesis, ectopic tissue and thyroid hypoplasia. Thyroid dysgenesis is usually sporadic; in only 2% it occurs in a familial fashion. It can be caused by mutations in transcription factors that are essential for the development and function of thyroid follicular cells. Thyroid hypoplasia can also result from resistance to TSH at the level of the thyrocytes. Defects in the steps required for thyroid hormone synthesis within thyroid follicular cells are referred to as dyshormonogenesis and account for about 10-15% of congenital hypothyroidism. In contrast to thyroid dysgenesis, affected patients typically present with goitrous enlargement of the thyroid. The defects leading to dyshormonogenesis typically display a recessive mode of inheritance. Careful clinical, biochemical and molecular analyses of patients with syndromic and non-syndromic forms of thyroid dysgenesis and dyshormonogenesis have significantly enhanced our understanding of the wide spectrum of pathogenetic mechanisms underlying congenital hypothyroidism and provide unique insights into the (patho)physiology of thyroid development and hormone synthesis.
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5

Makretskaya, Nina A., Olga B. Bezlepkina, Anna A. Kolodkina, et al. "Study of molecular basis of thyroid dysgenesis." Clinical and experimental thyroidology 14, no. 2 (2018): 64–71. http://dx.doi.org/10.14341/ket9556.

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Congenital hypothyroidism is a heterogeneous group of diseases, which is manifested by loss of function of the thyroid gland that affects infants from birth. 80–85% of cases are due to different types of thyroid dysgenesis. 5 genes have been described that are involved in the pathogenesis of thyroid dysgenesis: TSHR, PAX8, FOXE1, NKX2-1, NKX2-5.
 Aims. To evaluate the prevalence of mutations in the genes TSHR, PAX8, FOXE1, NKX2-1, NKX2-5 among patients with severe congenital hypothyroidism.
 Materials and methods. 161 patients (64 boys, 97 girls) with congenital hypothyroidism (TSH levels at neonatal screening or retesting greater than 90 mU/l) were included in the study. 138 subjects had different variants of thyroid dysgenesis, and 23 patients had normal volume of the gland. A next generation sequencing was used for molecular-genetic analysis. Sequencing was performed using PGM semiconductor sequencer (Ion Torrent, Life Technologies, USA) and a panel “Hypothyroidism” (Custom DNA Panel). Assessment of the pathogenicity of sequence variants were carried out according to the latest international guidelines (ACMG, 2015).
 Results. 13 patients had variants in thyroid dysgenesis genes (8,1%, 13/161): TSHR, n = 6; NKX2-1, n = 3; NKX2-5, n = 1; PAX8, n = 3; FOXE1, n = 0.
 Conclusions. Mutations in thyroid dysgenesis genes are a rare pathology. The majority of variants among our patients were identified in TSHR.
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6

Mio, Catia, Giorgio Grani, Cosimo Durante, and Giuseppe Damante. "Molecular defects in thyroid dysgenesis." Clinical Genetics 97, no. 1 (2019): 222–31. http://dx.doi.org/10.1111/cge.13627.

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7

Polak, Michel, Sylvia Sura-Trueba, Anne Chauty, Gabor Szinnai, Aurore Carré, and Mireille Castanet. "Molecular Mechanisms of Thyroid Dysgenesis." Hormone Research in Paediatrics 62, no. 3 (2004): 14–21. http://dx.doi.org/10.1159/000080494.

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8

ABRAMOWICZ, MARC J., GILBERT VASSART, and SAMUEL REFETOFF. "Probing the Cause of Thyroid Dysgenesis." Thyroid 7, no. 3 (1997): 325–26. http://dx.doi.org/10.1089/thy.1997.7.325.

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9

Kuehnen, P., A. Grueters, and H. Krude. "Two Puzzling Cases of Thyroid Dysgenesis." Hormone Research in Paediatrics 71, no. 1 (2009): 93–97. http://dx.doi.org/10.1159/000178047.

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10

Chun, Sangwoo, Young Seok Lee, and Jeesuk Yu. "Thyroid imaging study in children with suspected thyroid dysgenesis." Annals of Pediatric Endocrinology & Metabolism 26, no. 1 (2021): 53–59. http://dx.doi.org/10.6065/apem.2040120.060.

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11

Grasberger, Helmut, Usanee Ringkananont, Michael Croxson, and Samuel Refetoff. "Resistance to Thyroid Hormone in a Patient with Thyroid Dysgenesis." Thyroid 15, no. 7 (2005): 730–33. http://dx.doi.org/10.1089/thy.2005.15.730.

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12

Castanet, Mireille, Daniela Marinovic, Michel Polak, and Juliane Léger. "Epidemiology of Thyroid Dysgenesis: The Familial Component." Hormone Research in Paediatrics 73, no. 4 (2010): 231–37. http://dx.doi.org/10.1159/000284386.

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13

Vassart, Gilbert, and Jacques E. Dumont. "Thyroid Dysgenesis: Multigenic or Epigenetic … or Both?" Endocrinology 146, no. 12 (2005): 5035–37. http://dx.doi.org/10.1210/en.2005-1238.

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14

Mahjoubi, Frouzandeh, Mona Malek Mohammadi, Maryam Montazeri, Masoud Aminii, and Mahin Hashemipour. "Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis." Arquivos Brasileiros de Endocrinologia & Metabologia 54, no. 6 (2010): 555–59. http://dx.doi.org/10.1590/s0004-27302010000600008.

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OBJECTIVE: Congenital hypothyroidism (CH) may be caused by defects in the thyroid or in one of the stages in the synthesis of thyroid hormones. Thyroid dysgenesis may be associated with mutation in the paired box transcription factor 8 (PAX8) gene. We attempted to screen PAX8 gene mutation in 50 CH patients with thyroid dysgenesis. SUBJECTS AND METHODS: The patients were classified in two groups as agenesis and ectopic based on biochemical and para clinical tests. By employing PCR, Single Strand Conformation Polymorphism (SSCP) and sequencing, exons 3 to 12 of PAX8 gene with their exon-intron boundaries were studied. RESULTS: No mutation was found in these patients in any of the exons. CONCLUSION: Our results, once again, indicate that the PAX8 mutation rate is very low and can only explain a minority of the cases. Therefore, it is highly needed to further investigate the genes controlling development and function of thyroid.
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15

Gani, Azhari, and Iskandar Zakaria. "Bone Maturnity Delay in Congenital Hypothyroid." Budapest International Research in Exact Sciences (BirEx) Journal 3, no. 1 (2020): 726–34. http://dx.doi.org/10.33258/birex.v3i1.1489.

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Congenital hypothyroid (CH) is a Hormonal disorder that can be caused by thyroid gland dysfunction and if not treated early on, will cause serious mental and physical growth disorders. CH is divided into permanent and transient forms which etiologically can be divided into primary, secondary or peripheral. Thyroid dysgenesis is the primary cause and 85% of permanent CH is with abnormalities of thyroid hormone biosynthesis from birth (dishormongeneses). The incidence of dysgenesis accounts for 10-15% of cases. Transient congenital thyroid occurs mostly in infants with preterm birth in low-iodine endemic areas. A study showed a permanent incidence of CH 1: 1500 and transient CH 1: 300 in one of the areas with iodine deficiency in Central Java.Survival analysis showed that the risk of developing mental retardation and delayed physical growth was greater at the age of diagnosis over 1 year.
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16

Ohnishi, Hisashi, Hirokazu Sato, Hiromasa Noda, Hiroaki Inomata, and Nozomu Sasaki. "Color Doppler Ultrasonography: Diagnosis of Ectopic Thyroid Gland in Patients with Congenital Hypothyroidism Caused by Thyroid Dysgenesis." Journal of Clinical Endocrinology & Metabolism 88, no. 11 (2003): 5145–49. http://dx.doi.org/10.1210/jc.2003-030743.

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Abstract The etiology of congenital hypothyroidism (CH) may play an important role in determining disease severity, outcome, and, therefore, its treatment schedule. Radionuclide imaging (RI) is currently the most precise diagnostic technique to establish the etiology of CH. Conventional ultrasound can identify an athyrotic condition at the normal neck position and has gained acceptance for the initial evaluation of CH; however, its ability in delineating ectopic thyroid is limited. We used color Doppler ultrasonography (CDU) to assess blood flow and morphology in the detection of ectopic thyroid in 11 CH patients disclosed by neonatal screening; thyroid glands were undetectable at the normal location by gray-scale ultrasonography (GSU). The patients studied consisted of two infants for initial investigation and nine children for reevaluating the cause of CH. All of the patients underwent GSU, CDU, RI, and magnetic resonance imaging (MRI) investigation. We set RI as the defining diagnostic test for detecting ectopic thyroid and compared the imaging of CDU with those of GSU and MRI. The results of RI showed 10 ectopic thyroids and one athyreosis. In the patients with ectopic thyroid, the sensitivity of CDU, GSU, and MRI for detecting ectopic thyroid was 90, 70, and 70%, respectively. We conclude that CDU is superior to GSU and MRI for detecting ectopic thyroid and that CDU may be adopted as the diagnostic tool for the initial investigation of suspected CH.
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17

Karakoc-Aydiner, Elif, Serap Turan, Ihsan Akpinar, et al. "Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy." European Journal of Endocrinology 166, no. 1 (2012): 43–48. http://dx.doi.org/10.1530/eje-11-0140.

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ObjectivesWe aimed to investigate the reliability of thyroid ultrasonography (US) and scintigraphy in determining the type of thyroid dysgenesis (TD).MethodsThe study included 82 children (8.0±5.6 years) with a diagnosis of TD by thyroid scintigraphy with 99mTc and/or US. The patients were re-evaluated 6.0±5.1 years after the diagnosis. Thyroid US was performed in all cases, regardless of the previous US imaging. Scintigraphy images performed at the time of diagnoses (n=60) were re-evaluated during the study. Those who had no scintigraphy at the time of diagnosis (n=22) or had discordant findings with US (n=6) underwent a new scintigraphy.ResultsScintigraphies revealed no uptake in 37, ectopia in 35, and hypoplasia in 10 cases. The sensitivity vs specificity for US to detect athyreosis, ectopia, and hypoplasia at the time of initial diagnoses was 90.5 vs 47.8, 10 vs 100, and 100 vs 80.4% respectively. The sensitivity vs specificity for scintigraphy at the time of initial diagnoses was 96.2 vs 100, 92 vs 97.1, and 100 vs 96%, respectively, for each diagnosis. Re-scintigraphy at the time of the study led to a change in the initial diagnosis of 3/6 cases. Repeated US showed disappearance of previously reported hypoplastic thyroid tissues in eight patients.ConclusionUS alone could not differentiate ectopia and athyreosis, whereas scintigraphy alone is also prone to mistakes in newborns and young ages. Dual thyroid imaging is important for precise structural definition of TD.
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18

Bereket, Abdullah, and Thomas A. Wilson. "Thyroid dysgenesis and the dysplasia hypothesis in tuberous sclerosis." American Journal of Medical Genetics 47, no. 3 (1993): 417–19. http://dx.doi.org/10.1002/ajmg.1320470324.

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19

Bryant, Adam, Marion C. Reid, and M. Elizabeth Oates. "A Unique Case of Thyroid Dysgenesis in a Neonate." Clinical Nuclear Medicine 36, no. 7 (2011): 563–64. http://dx.doi.org/10.1097/rlu.0b013e318219b279.

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Dayal, Devi, L. Sindhuja, Anish Bhattacharya, and Bhavneet Bharti. "Advanced maternal age in Indian children with thyroid dysgenesis." Clinical Pediatric Endocrinology 24, no. 2 (2015): 59–62. http://dx.doi.org/10.1297/cpe.24.59.

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21

Meeus, Laurent, Brigitte Gilbert, Catherine Rydlewski, et al. "Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized Thyroid." Journal of Clinical Endocrinology & Metabolism 89, no. 9 (2004): 4285–91. http://dx.doi.org/10.1210/jc.2004-0166.

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Thyroid dysgenesis is the most common cause of congenital hypothyroidism, a relatively frequent disease affecting 1 in 3000–4000 newborns. Whereas most cases are sporadic, mutations in transcription factors implicated in thyroid development have been shown to cause a minority of cases transmitted as monogenic Mendelian diseases. PAX8 is one of these transcription factors, and so far, five mutations have been identified in its paired domain in patients with thyroid dysgenesis. We have identified a novel mutation of PAX8, in the heterozygous state, in a father and his two children both presenting with congenital hypothyroidism associated with an in-place thyroid of normal size at birth. In addition, one of the affected siblings displayed unilateral kidney agenesis. The mutation substitutes a highly conserved serine in position 54 of the DNA-binding domain of the protein (S54G mutation) by a glycine. Functional analyses of the mutant protein (PAX8-S54G) demonstrated that it is unable to bind a specific cis-element of the thyroperoxidase gene promoter in EMSAs and that it has almost completely lost the ability to act in synergy with Titf1 to transactivate transcription from the thyroglobulin promoter/enhancer. These results indicate that loss of function mutations of the PAX8 gene may cause congenital hypothyroidism in the absence of thyroid hypoplasia.
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22

Nakamura, Teppei, Osamu Ichii, Yuji Sunden, et al. "Slc:Wistar/ST rats develop unilateral thyroid dysgenesis: A novel animal model of thyroid hemiagenesis." PLOS ONE 14, no. 8 (2019): e0221939. http://dx.doi.org/10.1371/journal.pone.0221939.

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23

Sindhuja, Lakshminarasimhan, Devi Dayal, Kushaljit Singh Sodhi, Naresh Sachdeva, and Anish Bhattacharya. "Thyroid dysfunction and developmental anomalies in first degree relatives of children with thyroid dysgenesis." World Journal of Pediatrics 12, no. 2 (2015): 215–18. http://dx.doi.org/10.1007/s12519-015-0061-z.

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Liu, Shiguo, Jian Chai, Guohua Zheng, Huichao Li, Deguo Lu, and Yinlin Ge. "Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis." Journal of Clinical Research in Pediatric Endocrinology 8, no. 1 (2016): 21–25. http://dx.doi.org/10.4274/jcrpe.2456.

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25

Castanet, Mireille, Stanislas Lyonnet, Catherine Bonaïti-Pellié, Michel Polak, Paul Czernichow, and Juliane Léger. "Familial Forms of Thyroid Dysgenesis among Infants with Congenital Hypothyroidism." New England Journal of Medicine 343, no. 6 (2000): 441–42. http://dx.doi.org/10.1056/nejm200008103430614.

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26

Zhou, Zhixia, Chengyu Yang, Fuyan Lv, et al. "Novel THRB mutation analysis in congenital hypothyroidism with thyroid dysgenesis." Journal of Cellular Biochemistry 119, no. 11 (2018): 9474–82. http://dx.doi.org/10.1002/jcb.27264.

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27

De Felice, Mario, Catherine Ovitt, Elio Biffali, et al. "A mouse model for hereditary thyroid dysgenesis and cleft palate." Nature Genetics 19, no. 4 (1998): 395–98. http://dx.doi.org/10.1038/1289.

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28

van Engelen, Klaartje, Mathilda T. M. Mommersteeg, Marieke J. H. Baars, et al. "The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis." PLoS ONE 7, no. 12 (2012): e52685. http://dx.doi.org/10.1371/journal.pone.0052685.

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Macchia, Paolo Emidio, Paola Lapi, Heiko Krude, et al. "PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis." Nature Genetics 19, no. 1 (1998): 83–86. http://dx.doi.org/10.1038/ng0598-83.

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Bhartiya, SK, A. Verma, S. Basu, and VK Shukla. "Congenital thyroid hemiagenesis with multinodular goiter." Acta Radiologica Short Reports 3, no. 9 (2014): 204798161453028. http://dx.doi.org/10.1177/2047981614530286.

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Thyroid hemiagenesis is a rare form of thyroid dysgenesis characterized by an absence of half of the thyroid gland. Developmental hemi-thyroid anomalies can result from either an abnormal descent or an agenesis of one lobe of the thyroid gland. We report a case of a 40-year-old woman with history of a longstanding gradually progressive thyroid swelling without any complication. An ultrasonographic examination diagnosed the absence of the left thyroid lobe and enlargement of the right lobe, which was confirmed on a computed tomography (CT) angiogram and a radionuclide scan of the neck. A cytological examination showed nodular goiter with cystic degeneration. Right subtotal thyroidectomy was performed and histopathological examination confirmed adenomatous goiter with degenerative changes. We report the rarity of the condition and emphasize the role of a comprehensive radiological, cytological, and radionuclide algorithm for an accurate preoperative diagnosis and subsequent management.
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Salekin, Mohammad Simoon, Fatima Begum, Mohshi Um Mokaddema, Md Sunny Anam Chowdhury, Sadia Sultana, and Nurun Nahar. "Hemi agenesis of Thyroid Gland in a Euthyroid Child having Positive Family History of Thyroid Disorder." Bangladesh Journal of Nuclear Medicine 17, no. 1 (2015): 104–10. http://dx.doi.org/10.3329/bjnm.v17i1.22501.

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Thyroid Hemiagenesis (THA) is a rare form of thyroid developmental anomaly. This developmental defect may or may not coincide with hormonal dysfunction. The detection of anomaly is quite incidental and infrequently found during investigations assessing thyroid functions. A three years old boy presented with gradual swelling in front of neck during last 2 months. He had no history of delayed milestones. Ultrasound imaging and thyroid scan by 99m -Technetium- pertechnetate revealed hemi agenetic development of left lobe of thyroid gland. His biochemical assessment showed euthyroid state. He had positive family history with hypothyroid maternal grandmother and congenital hypothyroid maternal cousin. Ultrasonography and thyroid scan are useful tools for demonstrating this form of dysgenesis of thyroid gland. Follow up monitoring of thyroid function at regular interval in children with congenital anomaly of thyroid gland should be done to take timely measures, if required. DOI: http://dx.doi.org/10.3329/bjnm.v17i1.22501 Bangladesh J. Nuclear Med. 17(1): 104-110, January 2014
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Brust, Ester S., Cristine B. Beltrao, Maria C. Chammas, Tomoco Watanabe, Marcelo T. Sapienza, and Suemi Marui. "Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis." Arquivos Brasileiros de Endocrinologia & Metabologia 56, no. 3 (2012): 173–77. http://dx.doi.org/10.1590/s0004-27302012000300004.

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OBJECTIVES: To precisely classify the various forms of TD, and then to screen for mutations in transcription factor genes active in thyroid development. SUBJECTS AND METHODS: Patients underwent ultrasound, thyroid scan, and serum thyroglobulin measurement to accurately diagnose the form of TD. DNA was extracted from peripheral leukocytes. The PAX8, and NKX2.5 genes were evaluated in all patients, and TSH receptor (TSHR) gene in those with hypoplasia. RESULTS: In 27 nonconsanguineous patients with TD, 13 were diagnosed with ectopia, 11 with hypoplasia, and 3 with athyreosis. No mutations were detected in any of the genes studied. CONCLUSION: Sporadic cases of TD are likely to be caused by epigenetic factors, rather than mutations in thyroid transcription factors or genes involved in thyroid development.
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Sun, Feng, Jun-Xiu Zhang, Chang-Yi Yang, et al. "The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes." European Journal of Endocrinology 178, no. 6 (2018): 623–33. http://dx.doi.org/10.1530/eje-17-1017.

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Objective Congenital hypothyroidism (CH), the most common neonatal metabolic disorder, is characterized by impaired neurodevelopment. Although several candidate genes have been associated with CH, comprehensive screening of causative genes has been limited. Design and methods One hundred ten patients with primary CH were recruited in this study. All exons and exon–intron boundaries of 21 candidate genes for CH were analyzed by next-generation sequencing. And the inheritance pattern of causative genes was analyzed by the study of family pedigrees. Results Our results showed that 57 patients (51.82%) carried biallelic mutations (containing compound heterozygous mutations and homozygous mutations) in six genes (DUOX2, DUOXA2, DUOXA1, TG, TPO and TSHR) involved in thyroid hormone synthesis. Autosomal recessive inheritance of CH caused by mutations in DUOX2, DUOXA2, TG and TPO was confirmed by analysis of 22 family pedigrees. Notably, eight mutations in four genes (FOXE1, NKX2-1, PAX8 and HHEX) that lead to thyroid dysgenesis were identified in eight probands. These mutations were heterozygous in all cases and hypothyroidism was not observed in parents of these probands. Conclusions Most cases of congenital hypothyroidism in China were caused by thyroid dyshormonogenesis rather than thyroid dysgenesis. This study identified previously reported causative genes for 57/110 Chinese patients and revealed DUOX2 was the most frequently mutated gene in these patients. Our study expanded the mutation spectrum of CH in Chinese patients, which was significantly different from Western countries.
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34

Bakker, B., T. Vulsma, J. de Randamie, et al. "A negative iodine balance is found in healthy neonates compared with neonates with thyroid agenesis." Journal of Endocrinology 161, no. 1 (1999): 115–20. http://dx.doi.org/10.1677/joe.0.1610115.

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We studied the effects of the presence or absence of the thyroid gland on the iodine metabolism and excretion in term Dutch newborns by performing a retrospective study of the urinary iodine excretion in 193 term newborns with abnormal congenital hypothyroidism screening results. Thirty-six euthyroid newborns with decreased thyroxine-binding globulin levels were compared with 157 hypothyroid patients, 54 due to thyroid agenesis and 103 due to thyroid dysgenesis. A significant difference in the urinary iodine excretion was observed between the agenesis group (mean: 28 micrograms/24 h) and the euthyroid newborns (mean: 46 micrograms/24 h, P=0.001). In conclusion, healthy, euthyroid, term newborns excreted more iodine in their urine than newborns with thyroid agenesis. These results strongly indicated the existence of a temporarily negative iodine balance: the excretion of iodine prevailed over the intake and the newborn's thyroidal iodine, stored during pregnancy, could be used for thyroxine synthesis in the postnatal period. Since healthy term neonates were able to maintain adequate plasma free thyroxine concentrations under normal TSH stimulation, the prenatally acquired iodine stores could be considered sufficiently high to compensate for the transient postnatal losses.
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35

Macchia, P. E. "FOXEI polymorphisms: A new piece in the puzzle of thyroid dysgenesis." Journal of Endocrinological Investigation 30, no. 1 (2007): 1–2. http://dx.doi.org/10.1007/bf03347387.

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36

Hermanns, Pia, Helmut Grasberger, Samuel Refetoff, and Joachim Pohlenz. "Mutations in theNKX2.5Gene and thePAX8Promoter in a Girl with Thyroid Dysgenesis." Journal of Clinical Endocrinology & Metabolism 96, no. 6 (2011): E977—E981. http://dx.doi.org/10.1210/jc.2010-2341.

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37

van Vliet, Guy, and Gilbert Vassart. "Monozygotic Twins Are Generally Discordant for Congenital Hypothyroidism from Thyroid Dysgenesis." Hormone Research 72, no. 5 (2009): 320. http://dx.doi.org/10.1159/000245935.

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38

Vulsma, Thomas, Johan A. Rammeloo, Margareth H. Gons, and Jan J. M. de Vijlder. "The role of serum thyroglobulin concentration and thyroid ultrasound imaging in the detection of iodide transport defects in infants." Acta Endocrinologica 124, no. 4 (1991): 405–10. http://dx.doi.org/10.1530/acta.0.1240405.

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Abstract. When discovered by neonatal screening, a thyroid dyshormonogenesis is usually not recognized as a goitre. Especially a total iodide transport defect can easily be misclassified as thyroid agenesis, since radionuclide imaging cannot visualize the thyroid. We present the only iodide transport defect ever discovered in the Netherlands, the 35th reported in the literature, and the first one found exclusively as a result of neonatal screening. We demonstrate that iodide transport defects, in common with organification and deiodinase defects, can be distinguished from thyroid dysgenesis by demonstrating a normal or enlarged thyroid ultrasound image, and especially by measuring very high serum thyroglobulin levels (above 1000 pmol/l). In the presented case, an iodide-123 saliva-to-serum ratio near unity completed the etiologic classification. Measurement of serum thyroglobulin levels, in combination with thyroid ultrasound imaging, will improve the early identification of hereditary types of congenital hypothyroidism, and especially iodide transport defects, in patients found by neonatal thyroid screening.
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39

Zou, Minjing, Ali S. Alzahrani, Ali Al-Odaib, et al. "Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis." Journal of Clinical Endocrinology & Metabolism 103, no. 5 (2018): 1889–98. http://dx.doi.org/10.1210/jc.2017-02202.

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Abstract Context Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, affecting one in 3000 to 4000 newborns. Since the introduction of a newborn screening program in 1988, more than 300 cases have been identified. The underlying genetic defects have not been systematically studied. Objective To identify the mutation spectrum of CH-causing genes. Methods Fifty-five patients from 47 families were studied by next-generation exome sequencing. Results Mutations were identified in 52.7% of patients (29 of 55) in the following 11 genes: TG, TPO, DUOX2, SLC26A4, SLC26A7, TSHB, TSHR, NKX2-1, PAX8, CDCA8, and HOXB3. Among 30 patients with thyroid dyshormonogenesis, biallelic TG mutations were found in 12 patients (40%), followed by biallelic mutations in TPO (6.7%), SLC26A7 (6.7%), and DUOX2 (3.3%). Monoallelic SLC26A4 mutations were found in two patients, one of them coexisting with two tandem biallelic deletions in SLC26A7. In 25 patients with thyroid dysgenesis, biallelic mutations in TSHR were found in six patients (24%). Biallelic mutations in TSHB, PAX 8, NKX2-1, or HOXB3 were found once in four different patients. A monoallelic CDCA8 mutation was found in one patient. Most mutations were novel, including three TG, two TSHR, and one each in DUOX2, TPO, SLC26A7, TSHB, NKX2-1, PAX8, CDCA8, and HOXB3. SLC26A7 and HOXB3 were novel genes associated with thyroid dyshormonogenesis and dysgenesis, respectively. Conclusions TG and TSHR mutations are the most common genetic defects in Saudi patients with CH. The prevalence of other disease-causing mutations is low, reflecting the consanguineous nature of the population. SLC26A7 mutations appear to be associated with thyroid dyshormonogenesis.
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Karakoc, Elif, Serap Turan, Ihsan Akpinar, et al. "Screening of Parents and Siblings of Patients with Thyroid Dysgenesis by Thyroid Function Tests and Ultrasound." Hormone Research in Paediatrics 70, no. 6 (2008): 329–39. http://dx.doi.org/10.1159/000161863.

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41

Singhal, Monisha, Nitin Singh, Anand Rohit, and C. Chaudhary. "Dental Management of a Patient with Congenital Hypothyroidism: A Case Report." Dental Journal of Advance Studies 04, no. 02 (2016): 122–25. http://dx.doi.org/10.1055/s-0038-1672057.

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AbstractCongenital hypothyroidism (CHT) is one of the most common thyroid disorders. It occurs because of dysgenesis of thyroid gland which is responsible for the normal development of neural system. Child patient suffering from congenital hypothyroidism shows various medical and behavioral symptoms which makes routine dental care very challenging to the pediatric dentist. Due to increased awareness and introduction of neonatal screening, the long term hypothyroidism has become rare. The most significant oral conditions related to these patients are delayed eruption and dental caries. The present case report outlines the dental treatment of a 9yr old girl with congenital hypothyroidism.
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42

Bongsebandhu-phubhakdi, Chansuda, Therdpong Tempark, and Vichit Supornsilpchai. "Endocrine manifestations of PHACE syndrome." Journal of Pediatric Endocrinology and Metabolism 32, no. 8 (2019): 797–802. http://dx.doi.org/10.1515/jpem-2019-0126.

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Abstract PHACE syndrome is an uncommon disorder of posterior fossa anomalies, cervicofacial infantile hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and midline/ventral defects. Endocrine abnormalities including hypopituitarism and ectopic thyroid were rarely described. In this article we review occurrence, onset, presenting symptoms, hormonal treatments and outcomes of all endocrine abnormalities in PHACE syndrome. Eleven of 20 (55%) had hypothalamic-pituitary dysfunction and 10 of 20 (50%) had thyroid dysgenesis. A thorough understanding of the endocrine manifestations is important for clinicians to early identify endocrine involvement in PHACE and develop plans for monitoring and treatment of its complications.
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43

Sugunan, Aneesh, Zahir S. Hussain, Kumaran Muthappan Palaniappan, et al. "Thyroid ectopia: a case series." International Surgery Journal 8, no. 5 (2021): 1570. http://dx.doi.org/10.18203/2349-2902.isj20211830.

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Ectopic thyroid is a form of thyroid dysgenesis and is defined as the presence of thyroid tissue in an abnormal location. Its prevalence is about 1 per 1,00, 000-3,00,000 people, rising to 1 per 4,000-8,000 patients with thyroid diseases. The most common sites of ectopic thyroid are lingual (90%) and anterior neck (10%). They are usually diagnosed with hypothyroidism with a mass with, or without pressure symptoms in the 2nd or 3rd decade of life when there is increased demand of thyroid hormone. Presence of two ectopic foci of thyroid tissue simultaneously is rare, and very few such cases of dual thyroid ectopia have been reported. We present a case series of 3 ectopic thyroid with 3 different clinical presentation. The first case is a 19-year-old boy who presented with clinical and biochemical overt hypothyroidism and was discovered to have only a sublingual ectopic thyroid gland. The second case is a 16-year-old girl who presented with dysphagia and on evaluation was found to have a dual ectopic thyroid gland in the lingual and sub lingual region. The third case is a 28-year-old women who presented with a sub hyoid swelling which on evaluation was diagnosed as a dual ectopic thyroid in the lingual and sub lingual region.
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44

Peters, C., A. S. P. van Trotsenburg, and N. Schoenmakers. "DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives." European Journal of Endocrinology 179, no. 6 (2018): R297—R317. http://dx.doi.org/10.1530/eje-18-0383.

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Congenital hypothyroidism (CH) may be primary, due to a defect affecting the thyroid gland itself, or central, due to impaired thyroid-stimulating hormone (TSH)-mediated stimulation of the thyroid gland as a result of hypothalamic or pituitary pathology. Primary CH is the most common neonatal endocrine disorder, traditionally subdivided into thyroid dysgenesis (TD), referring to a spectrum of thyroid developmental abnormalities, and dyshormonogenesis, where a defective molecular pathway for thyroid hormonogenesis results in failure of hormone production by a structurally intact gland. Delayed treatment of neonatal hypothyroidism may result in profound neurodevelopmental delay; therefore, CH is screened for in developed countries to facilitate prompt diagnosis. Central congenital hypothyroidism (CCH) is a rarer entity which may occur in isolation, or (more frequently) in association with additional pituitary hormone deficits. CCH is most commonly defined biochemically by failure of appropriate TSH elevation despite subnormal thyroid hormone levels and will therefore evade diagnosis in primary, TSH-based CH-screening programmes. This review will discuss recent genetic aetiological advances in CH and summarize epidemiological data and clinical diagnostic challenges, focussing on primary CH and isolated CCH.
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45

Muzza, Marina, Luca Persani, Tiziana de Filippis, et al. "Absence of sonic hedgehog (Shh) germline mutations in patients with thyroid dysgenesis." Clinical Endocrinology 69, no. 5 (2008): 828–29. http://dx.doi.org/10.1111/j.1365-2265.2008.03265.x.

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46

Peller, Patrick J., Nanda Khedkar, and Charles Martinez. "DETECTION OF THYROID DYSGENESIS BY TECHNETIUM-99m PERTECHNETATE SCANNING IN CONGENITAL HYPOTHYROIDISM." Clinical Nuclear Medicine 19, no. 8 (1994): 754. http://dx.doi.org/10.1097/00003072-199408000-00033.

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47

Brown, Rosalind S., and Laurie A. Demmer. "The Etiology of Thyroid Dysgenesis—Still an Enigma after All These Years." Journal of Clinical Endocrinology & Metabolism 87, no. 9 (2002): 4069–71. http://dx.doi.org/10.1210/jc.2002-021092.

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48

Lee, I.-Te, Wayne Huey-Herng Sheu, and Shih-Yi Lin. "Familial Form of Thyroid Dysgenesis: Report of Thyroid Hemiagenesis with Accompanying Graves’ Disease in a Woman Whose Daughter Has Thyroid Agenesis." Hormone Research in Paediatrics 59, no. 1 (2003): 47–49. http://dx.doi.org/10.1159/000067938.

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49

Dentice, Monica, Viviana Cordeddu, Annamaria Rosica, et al. "Missense Mutation in the Transcription Factor NKX2–5: A Novel Molecular Event in the Pathogenesis of Thyroid Dysgenesis." Journal of Clinical Endocrinology & Metabolism 91, no. 4 (2006): 1428–33. http://dx.doi.org/10.1210/jc.2005-1350.

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Context: Congenital hypothyroidism (CH) is a common endocrine disorder with an incidence of 1:3000–4000 at birth. In 80–85% of cases, CH is caused by defects in thyroid organogenesis, resulting in absent, ectopically located, and/or severely reduced gland [thyroid dysgenesis (TD)]. Mutations in genes controlling thyroid development have demonstrated that in a few cases, TD is a Mendelian trait. However, accumulating evidence supports the view that the genetics of TD are complex, possibly with a polygenic/multifactorial basis. A higher prevalence of congenital heart disease has been documented in children with CH than in the general population. Such an association suggests a possible pathogenic role of genes involved in both heart and thyroid development. NKX2–5 encodes a homeodomain-containing transcription factor with a major role in heart development, and mutations affecting this gene have been reported in individuals with congenital heart disease. Objective: In the present work we investigated the possible involvement of NKX2–5 mutations in TD. Results: Our results indicate that Nkx2–5−/− embryos exhibit thyroid bud hypoplasia, providing evidence that NKX2–5 plays a role in thyroid organogenesis and that NKX2–5 mutations contribute to TD. NKX2–5 mutational screening in 241 patients with TD allowed the identification of three heterozygous missense changes (R25C, A119S, and R161P) in four patients with TD. Functional characterization of the three mutations demonstrated reduced DNA binding and/or transactivation properties, with a dominant-negative effect on wild-type NKX2–5. Conclusion: Our results suggest a previously unknown role of NKX2–5 in the pathogenesis of TD.
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50

Deladoëy, Johnny, Nicole Bélanger, and Guy Van Vliet. "Random Variability in Congenital Hypothyroidism from Thyroid Dysgenesis over 16 Years in Québec." Journal of Clinical Endocrinology & Metabolism 92, no. 8 (2007): 3158–61. http://dx.doi.org/10.1210/jc.2007-0527.

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Abstract Context: Research on the etiology of congenital hypothyroidism from thyroid dysgenesis (CHTD) (comprising mostly ectopy and agenesis) over the past decade has focused on genetic mechanisms. However, the possibility that environmental factors might be involved has been raised by studies showing a seasonal variability of the incidence of CHTD. Objectives: The objective of this study was to assess the variability in incidence of CHTD in the province of Québec, Canada. Design, Setting, Patients, and Main Outcome Measure: The Québec provincial newborn screening database was analyzed from January 1990 to December 2005. Only cases of permanent congenital hypothyroidism with thyroid ectopy or agenesis on scintigraphy were analyzed. Results: During the study period, 1,303,341 children were screened, and 424 cases of permanent congenital hypothyroidism were diagnosed, giving an overall incidence of 1:3074. Of these, 306 had CHTD (overall incidence 1:4259) from either ectopy (n = 231) or agenesis (n = 75). Over the 16 yr of the study, this incidence remained stable (P = 0.57), and no significant variability in monthly incidence was found (P = 0.87). Conclusions: The incidence of CHTD did not vary over the observation period, and its monthly variation was random. Therefore, environmental factors do not appear to play a significant role in the etiology of CHTD.
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