Thyroid Dysgenesis (Thyroid Agenesis)

Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM.

Also Known As:

Networked: 212 relevant articles (0 outcomes, 7 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Congenital Hypothyroidism (Cretinism)
2.	Neoplasms (Cancer)
3.	Genetic Predisposition to Disease (Genetic Predisposition)
4.	Hypothyroidism
5.	Thyroid Dysgenesis (Thyroid Agenesis)

Experts

1.	Van Vliet, Guy: 5 articles (01/2015 - 09/2004)
2.	Castanet, Mireille: 4 articles (07/2015 - 12/2007)
3.	Refetoff, Samuel: 4 articles (07/2013 - 02/2002)
4.	Di Lauro, Roberto: 4 articles (01/2010 - 08/2002)
5.	De Felice, Mario: 4 articles (01/2010 - 08/2002)
6.	Polak, Michel: 3 articles (07/2015 - 12/2007)
7.	Carré, Aurore: 3 articles (07/2015 - 12/2007)
8.	Deladoëy, Johnny: 3 articles (01/2015 - 06/2014)
9.	Kopp, Peter: 3 articles (01/2014 - 06/2002)
10.	Grasberger, Helmut: 3 articles (07/2013 - 07/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Thyroid Dysgenesis:

1.	Transcription Factors (Transcription Factor)IBA 07/01/2013 - "Mutations in PAX8, a transcription factor gene, cause thyroid dysgenesis (TD). " 11/01/2012 - "Among thyroid transcription factors PAX8 is the most frequent cause of thyroid dysgenesis. " 08/01/2010 - "Thyroid dysgenesis may be associated with mutation in the paired box transcription factor 8 (PAX8) gene. " 06/30/2010 - "Differential diagnosis in these cases includes the exclusion of other causes of thyroid dysgenesis, such as mutations in thyroid transcription factors. " 04/01/2006 - "Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis."
2.	Thyrotropin Receptors (Thyrotropin Receptor)IBA 07/01/2015 - "Thyroid dysgenesis may be associated with loss-of-function mutations in the thyrotropin receptor (TSHR) gene. " 11/01/2014 - "The thyroid-stimulating hormone receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with CH. " 01/01/2013 - "Novel heterozygous thyrotropin receptor mutation presenting with neonatal hyperthyrotropinaemia, mild thyroid hypoplasia and absent uptake on radioisotope scan." 04/01/2012 - "Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis." 03/01/2002 - "Whereas mutations in the transcription factor-2 (TTF-2) and PAX8 and in the TSH receptor genes (TSH-R) have been reported in a minority of patients with thyroid dysgenesis, the etiopathogeny of the majority of cases, and in particular of thyroid ectopy, remains unclear. "
3.	ThyroglobulinFDA Link 03/01/1988 - "Control of thyroglobulin secretion in patients with ectopic thyroid gland." 06/01/1984 - "Immunoperoxidase staining for thyroglobulin was utilized to correctly characterize the lingual mass as ectopic thyroid." 09/01/2004 - "Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism." 03/01/1988 - "Serum thyroglobulin (Tg) measurements were performed in 17 children with congenital hypothyroidism due to an ectopic thyroid gland before therapy and during follow-up. " 09/01/2005 - "At the time of this scan, her thyrotropin (TSH) was 92.8 microU/mL, thyroglobulin was less than 0.3 ng/mL, and thyroglobulin antibody was less than 3 IU/mL. Abnormalities in the embryologic development and migration of the thyroid gland can result in ectopic thyroid tissue. "
4.	DNA (Deoxyribonucleic Acid)IBA 07/01/2013 - "Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms." 10/01/2001 - "By direct sequencing of the PCR products of TITF2, we screened the genomic DNA from 46 patients with thyroid dysgenesis (five had agenesis, six had hypoplasia, 15 had ectopy, and 20 were undetermined). " 01/01/2015 - "Somatic mutations are not observed by exome sequencing of lymphocyte DNA from monozygotic twins discordant for congenital hypothyroidism due to thyroid dysgenesis." 01/01/2014 - "A new heterozygous nucleotide substitution was detected in the PAX8 DNA-binding motif (c.397C/T, R133W) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism. "
5.	polyalanineIBA 01/01/2010 - "FOXE1 polyalanine tract (poly-Ala) has been associated with thyroid dysgenesis. " 10/01/2001 - "Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis." 01/01/2011 - "Recent studies have pointed to the correlation between FOXE1 polyalanine tract (FOXE1-polyAla) length polymorphism and genetic susceptibility to thyroid dysgenesis causing congenital hypothyroidism. "
6.	Calcitonin (Calcitonin, Eel)FDA LinkGeneric 01/01/2015 - "The expression of calcitonin (CT) and Ki-67 was not increased, and there were no malignant cells in any sample, which could indicate that it is not easy for ectopic thyroids to become malignant between the neck and maxillofacial region." 11/01/1986 - "Ectopic thyroid tumor in a dog: thyroglobulin, calcitonin, and neuron-specific enolase immunocytochemical studies." 01/01/2015 - "The protein expression of thyroid transcription factor-1 (TTF-1), thyroglobulin (TG), calcitonin (CT), Ki-67 and parathyroid hormone (PTH) were analyzed from paraffin wax-stored specimens of ectopic thyroid tissue compared with those of orthotopic thyroid tissue. "
7.	Blocking AntibodiesIBA 01/01/1994 - "Thyroid growth blocking antibodies have been described in healthy mothers of children with permanent congenital hypothyroidism due to thyroid dysgenesis, but this observation was not confirmed in other studies including our own. "
8.	Phosphopyruvate Hydratase (Enolase)IBA 11/01/1986 - "Ectopic thyroid tumor in a dog: thyroglobulin, calcitonin, and neuron-specific enolase immunocytochemical studies."
9.	First StepIBA 01/01/2010 - "The identification of this regulatory element represents the first step in the investigation of upstream regulatory mechanisms that control Pax8 transcription during thyroid differentiation and are relevant to further studies on Pax8 as a candidate gene for thyroid dysgenesis."
10.	netrin-1IBA 01/01/2015 - "Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis."

Therapies and Procedures

1.	Thyroidectomy 03/01/2011 - "A rare case of ectopic thyroid in the right submandibular region is reported; it was diagnosed after total thyroidectomy and successfully treated through surgery." 06/01/2010 - "Sometimes asymptomatic or emerged after thyroidectomy, the ectopic thyroid may generate functional troubles or, most frequently, local compression that require surgical approach that, in the opinion of these authors, is ever indicated also for asymptomatic forms. " 02/01/2009 - "Owners should always be warned about the possibility of ectopic thyroid tissue before thyroidectomy is performed. " 09/01/2005 - "Controversial ectopic thyroid: a case report of thyroid tissue in the axilla and benign total thyroidectomy." 05/01/2014 - "Ectopic thyroid, Sternotomy, Thyroidectomy."
2.	Sternotomy 05/01/2014 - "Ectopic thyroid, Sternotomy, Thyroidectomy." 07/01/2014 - "Indication of median sternotomy was as follows: extension of goiter below the aortic arch, large thyroid tissue extending towards tracheal bifurcation, and ectopic thyroid tissue in the mediastinum. " 05/01/2014 - "When performed with caution and precision, this approach can avoid sternotomy in selected patients with ectopic thyroid goiter. " 05/01/2014 - "Sternotomy is generally accepted as the most adequate approach for the removal of ectopic thyroid goiters of the anterior mediastinum. " 05/01/2014 - "Is sternotomy always necessary for the treatment of mediastinal ectopic thyroid goiter?"
3.	Cholecystectomy 03/01/2013 - "Abdominal sonography revealed a duplicated gall bladder with the cystic-solid mass in the septum separating the two gall bladders while subsequent histopathology from the cholecystectomy specimen confirmed ectopic thyroid tissue within the wall of double gall bladder." 05/01/2010 - "We here report a case of ectopic thyroid tissue presenting as a gallbladder mass in a 60-year-old woman who underwent cholecystectomy. " 01/01/2003 - "We describe an unusual case of ectopic thyroid tissue found in the gallbladder wall of a 68-year-old man who underwent cholecystectomy for acute cholecystitis. "
4.	Neck Dissection (Radical Neck Dissection) 04/01/2010 - "Total thyroidectomy, submental "ectopic thyroid tissue" excision and bilateral neck dissection were then performed. " 01/01/2014 - "Since the ectopic thyroid tissue in his lateral neck was suggestive of metastasis of occult primary thyroid carcinoma, the patient underwent a total thyroidectomy plus a left modified radical neck dissection with preservation of level I. The diagnosis of multinodular goiter associated with two parasitic thyroid nodules was confirmed by immunohistochemistry. "
5.	Hormone Replacement Therapy (Therapy, Hormone Replacement) 12/01/1985 - "The pituitary and peripheral responses to L-T4 and L-T3 therapy were studied in 12 patients with congenital goitrous hypothyroidism, in 10 patients with an ectopic thyroid and onset of hypothyroidism at 3-8 years of age, and in 6 patients with adult-onset hypothyroidism, after they had had their chronic thyroid hormone replacement therapy discontinued for 30 days. " 04/01/2003 - "We report the clinical course and complications of longitudinal thyroid hormone replacement therapy (liothyronine sodium: T3) of two women with Cretinism and ectopic thyroid gland for the past 33 years until 2001. "