Thyroid Dysgenesis (Thyroid Agenesis)

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53 relevant articles (0 outcomes, 2 trials/studies) found for this Disease

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

Also Known As:

Thyroid Agenesis; Agenesis, Thyroid; Dysgenesis, Thyroid

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 420

Congenital Abnormalities: 9308

Thyroid Dysgenesis: 53

Lingual Thyroid: 44

Endocrine System Diseases: 390

Thyroid Diseases: 2998

Thyroid Dysgenesis: 53

Lingual Thyroid: 44

Related Diseases

1.	Congenital Hypothyroidism (Cretinism)
2.	Hypothyroidism
3.	Thyroid Dysgenesis (Thyroid Agenesis)
4.	Thyroiditis
5.	Patent Ductus Arteriosus
17 Diseases and 27 more articles analyzed in the Research Interface, order at left...

Experts

1.	Van Vliet, Guy: 2 articles (12/2007 - 09/2004)
2.	Trochet, Delphine: 1 article (12/2007)
3.	Castanet, Mireille: 1 article (12/2007)
4.	Amiel, Jeanne: 1 article (12/2007)
5.	Léger, Juliane: 1 article (12/2007)
6.	Carré, Aurore: 1 article (12/2007)
7.	Sura-Trueba, Sylvia: 1 article (12/2007)
8.	Polak, Michel: 1 article (12/2007)
9.	Szinnai, Gabor: 1 article (12/2007)
10.	Scotet, Virginie: 1 article (12/2007)

Drugs and Biologics

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

1.	Transcription Factors (Transcription Factor)IBA 04/01/2006 - "Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis." 09/01/2004 - "PAX8 is one of these transcription factors, and so far, five mutations have been identified in its paired domain in patients with thyroid dysgenesis" 12/01/2003 - "The most common cause of permenant CH is thyroid dysgenesis (85-90%) in which the transcription factors TTF1,TTF2 and PAX8 would appear to be obvious candidate genes in the aetiology" 08/01/2003 - "It is suggested that genetic factors might play a role in some cases of thyroid dysgenesis and the best candidate genes involved are those encoding transcription factors known to play a role in the embryonic development of the thyroid gland" 05/01/2008 - "CONTEXT: Thyroid dysgenesis may be associated with mutations in the paired box transcription factor 8 (PAX8) gene and is characterized by congenital hypothyroidism transmitted in an autosomal dominant mode" Get all the results and reference details, order at left...
2.	Thyrotropin Receptors (Thyrotropin Receptor)IBA 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" 01/01/2000 - "The autosomal recessive inheritance of mutations of the thyroid-stimulating hormone receptor gene was recognized in patients with CH and thyroid hypoplasia, while autosomal dominant mutations of the Pax-8 gene were described in patients with thyroid dysgenesis" 01/01/1996 - "The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis." 06/01/1999 - "Recent studies have revealed how mutations in the genes encoding either transcription factors or the thyroid stimulating hormone receptor cause, in humans or in mouse models, thyroid dysgenesis" 02/01/1999 - "Autosomal recessive inheritance of mutations of the thyrotrophin (TSH) receptor gene has also been reported in patients with CH and thyroid hypoplasia, and autosomal dominant mutations of the PAX8 gene have been described in patients with different forms of thyroid dysgenesis" Get all the results and reference details, order at left...
3.	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" Get all the results and reference details, order at left...
4.	HormonesIBA 07/01/2005 - "Resistance to thyroid hormone in a patient with thyroid dysgenesis." 01/01/2001 - "It is classically subdivided into: 1) thyroid dysgenesis (TD), a defect in the organogenesis of the gland leading to hypoplastic, ectopic, or absent thyroid gland; or 2) thyroid dyshormonogenesis, a defect in one of the biochemical mechanisms responsible for thyroid hormone synthesis" 11/01/1989 - "Most thyroid hormone actions, however, appear in the perinatal period, and infants with thyroid agenesis appear normal at birth and develop normally with prompt neonatal diagnosis and treatment" 12/01/2005 - "Congenital hypothyroidism with thyroid dysgenesis (TD) is a frequent human condition characterized by elevated levels of TSH in response to reduced thyroid hormone levels" 02/01/2004 - "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." Get all the results and reference details, order at left...
5.	Thyroxine (Levothyroxine)FDA LinkGeneric 06/01/1996 - "Suboptimal treated T4 levels (< 130 nmol/L) were seen with greater frequency in infants with thyroid agenesis (7/11) rather than ectopia (7/28, P < 0.03), despite receiving similar doses of thyroxine" 06/01/1994 - "Despite having received treatment at a mean age of 23 days, children with low neonatal thyroxine concentrations (< 50 nmol/L) at screening, particularly children with thyroid agenesis, had significant motor problems and borderline intelligence scores as late as 9 1/2 years of age" 03/01/2008 - "We report on two term newborns affected by thyroid agenesis and patent ductus arteriosus that closed after starting L-thyroxine substitutive therapy" 01/01/2008 - "We report on two term newborns affected by thyroid agenesis and patent ductus arteriosus that closed after starting L: -thyroxine substitutive therapy" 07/06/1989 - "Maternal-fetal transfer of thyroxine in congenital hypothyroidism due to a total organification defect or thyroid agenesis." Get all the results and reference details, order at left...
6.	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 11/01/1967 - "Thyroid-stimulating hormone in thyroid dysgenesis." 10/01/2005 - "A total of 1,228,551 newborn babies, who were almost all of babies born in Osaka for 14 years (168 months), were screened for congenital primary hypothyroidism by an identical mass-screening program using the thyrotropin method, and 429 patients with hypothyroidism due to thyroid dysgenesis (dysgenetic hypothyroidism) were found" 02/01/1999 - "Autosomal recessive inheritance of mutations of the thyrotrophin (TSH) receptor gene has also been reported in patients with CH and thyroid hypoplasia, and autosomal dominant mutations of the PAX8 gene have been described in patients with different forms of thyroid dysgenesis" 08/01/1998 - "Although thyroid hypoplasia has recently been associated with mutations in the thyrotropin (TSH) receptor, the cause of thyroid agenesis is unknown" 01/01/1986 - "Natural evolution of thyrotropin and thyroid hormones concentrations in hypothyroid newborns with thyroid agenesis or ectopy during the first month of life." Get all the results and reference details, order at left...
7.	IodineIBA 06/01/2008 - "In all the patients with thyroid agenesis or hypoplasia iodine levels were normal" 04/01/1999 - "In conclusion, healthy, euthyroid, term newborns excreted more iodine in their urine than newborns with thyroid agenesis" 04/01/1999 - "A negative iodine balance is found in healthy neonates compared with neonates with thyroid agenesis." 12/01/1984 - "39% of the disorders was caused by thyroid dysgenesis, 41% by inborn errors of the thyroid gland metabolism (16% Tg synthesis disorders), 6% by iodine deficiency and 14% by amniofoetography" 08/01/1998 - "The most common cause worldwide is iodine deficiency, but in iodine-sufficient regions thyroid dysgenesis is the most common cause of congenital hypothyroidism" Get all the results and reference details, order at left...
8.	Thyroglobulin FDA Link 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." 09/01/2007 - "Seven had neonatal evidence of gland in situ at the ultrasound examination performed at enrolment and received two rhTSH injections (4 microg/kg daily, i.m.) with 123I scintigraphy and perchlorate test on day 3. Three patients with an ultrasound diagnosis of thyroid dysgenesis received three rhTSH injections with 123I scintigraphy on days 3 and 4. TSH and thyroglobulin (Tg) determinations were performed on days 1, 3 and 4, and neck ultrasound on day 1. RESULTS: rhTSH stimulation caused Tg levels to increase in eight cases" 04/01/1991 - "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)" Get all the results and reference details, order at left...
9.	Thyroid HormonesIBA 07/01/2006 - "These congenital disorders include hypothalamic-pituitary or thyroid dysgenesis and/or dyshormonogenesis, as well as hyporesponsiveness or resistance to either TRH, TSH or to thyroid hormones" 01/01/1986 - "Natural evolution of thyrotropin and thyroid hormones concentrations in hypothyroid newborns with thyroid agenesis or ectopy during the first month of life." Get all the results and reference details, order at left...
10.	3' Untranslated Regions (3' UTR)IBA 08/01/1998 - "These results suggest that congenital hypothyroidism associated with thyroid dysgenesis is unlikely to be caused by mutations in the TTF-1 gene in which, however, were detected normal polymorphisms in the 5' flanking region, intron and 3' untranslated region." Get all the results and reference details, order at left...
32 Drugs and Important Bio-Agents and 53 more articles analyzed in the Research Interface, order at left...

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 02/01/2007 - "MATERIALS AND METHODS: The first patient was diagnosed for KS during pregnancy; he also presented a thyroid agenesis and a deficit of methyltetrahydrofolate reductase (MTHFR); at 30 months of age he was operated on for a grade II ependymoma of IV ventricle; after a multiple-stage surgery, he underwent oral chemotherapy and stereotactic radiotherapy, but after 15 months he presented a local recurrence and died" Get all the results and reference details, order at left...
2.	Aftercare (After-Treatment) 07/01/1984 - "At 10-13 months of age, after treatment withdrawal, the 2 infants from area A had permanent congenital hypothyroidism due to thyroid agenesis whereas the 2 infants from area C were euthyroid (transient congenital hypothyroidism)" Get all the results and reference details, order at left...
2 Therapies and Procedures and 2 more articles analyzed in the Research Interface, order at left...

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