甲状腺無形成
- 関
- thyroid dysgenesis
WordNet
- suggestive of a thyroid disorder; "thyroid personality"
- of or relating to the thyroid gland; "thyroid deficiency"; "thyroidal uptake" (同)thyroidal
- imperfect development; nondevelopment of a part (同)agenesia
PrepTutorEJDIC
- 甲状腺 / 甲状腺の
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/09/30 12:02:07」(JST)
[Wiki en表示]
| Thyroid dysgenesis |
| Classification and external resources |
| OMIM |
218700 |
| MeSH |
D050033 |
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[edit on Wikidata]
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Thyroid dysgenesis or thyroid agenesis is a cause of congenital hypothyroidism[1] where the thyroid is missing, ectopic, or severely underdeveloped.
It should not be confused with iodine deficiency, or with other forms of congenital hypothyroidism, such as thyroid dyshormonogenesis, where the thyroid is present but not functioning correctly.
Congenital hypothyroidism caused by thyroid dysgenesis can be associated with PAX8.[2]
Ectopic thyroid
An ectopic thyroid, also called accessory thyroid gland, is a form of thyroid dysgenesis in which an entire or parts of the thyroid located in another part of the body than what is the usual case. A completely ectopic thyroid gland may be located anywhere along the path of the descent of the thyroid during its embryological development, although it is most commonly located at the base of the tongue, just posterior to the foramen cecum of the tongue. In this location, an aberrant or ectopic thyroid gland is known as a lingual thyroid.[3] If the thyroid fails to descend to even higher degree, then the resulting final resting point of the thyroid gland may be high in the neck, such as just below the hyoid bone.[3] Parts of ectopic thyroid tissue ("accessory thyroid tissue") can also occur, and arises from remnants of the thyroglossal duct, and may appear anywhere along its original length.[3] Accessory thyroid tissue may be functional, but is generally insufficient for normal function if the main thyroid gland is entirely removed.[3]
Lingual thyroid is 4-7 times more common in females, with symptoms developing during puberty, pregnancy or menopause. Lingual thyroid may be asymptomatic, or give symptoms such as dysphagia (difficulty swallowing), dysphonia (difficulty talking) and dyspnea (difficulty breathing).[4]
References
- ^ Castanet M, Park SM, Smith A, et al. (August 2002). "A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate". Hum. Mol. Genet. 11 (17): 2051–9. doi:10.1093/hmg/11.17.2051. PMID 12165566.
- ^ Macchia PE, Lapi P, Krude H, et al. (May 1998). "PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis". Nat. Genet. 19 (1): 83–6. doi:10.1038/ng0598-83. PMID 9590296.
- ^ a b c d emedicine > Embryology of the Thyroid and Parathyroids > Thyroid Embryology Clinical Correlations By David J Kay and Arlen D Meyers. Updated: Jan 14, 2010
- ^ Bouquot, Brad W. Neville , Douglas D. Damm, Carl M. Allen, Jerry E. (2002). Oral & maxillofacial pathology (2. ed.). Philadelphia: W.B. Saunders. pp. 11–12. ISBN 0721690033.
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Congenital endocrine disorders (Q89.1–Q89.2, 759.1–759.2)
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| Pituitary |
- Congenital hypopituitarism
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| Thyroid |
- Thyroid disease
- Persistent thyroglossal duct
- Thyroglossal cyst
- Congenital hypothyroidism
- Thyroid dysgenesis
- Thyroid dyshormonogenesis
- Pendred syndrome
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| Parathyroid |
- Congenital absence of parathyroid
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| Adrenal |
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UpToDate Contents
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English Journal
- Levothyroxine replacement in primary congenital hypothyroidism: the higher the initial dose the higher the rate of overtreatment.
- Tuhan H, Abaci A, Cicek G, Anik A, Catli G, Demir K, Bober E.
- Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2015 Aug 5. pii: /j/jpem.ahead-of-print/jpem-2015-0047/jpem-2015-0047.xml. doi: 10.1515/jpem-2015-0047. [Epub ahead of print]
- BACKGROUND: Congenital hypothyroidism (CH) is the most frequent endocrine disorder during the neonatal period, and a delay in diagnosis and treatment leads to irreversible complications. A high L-thyroxine (LT4) dose is recommended for treatment, while the optimal starting dose is still a matter of
- PMID 26244672
- Resistance to thyroid hormone due to defective thyroid receptor alpha.
- Moran C1, Chatterjee K2.
- Best practice & research. Clinical endocrinology & metabolism.Best Pract Res Clin Endocrinol Metab.2015 Aug;29(4):647-57. doi: 10.1016/j.beem.2015.07.007. Epub 2015 Jul 30.
- Thyroid hormones act via nuclear receptors (TRα1, TRβ1, TRβ2) with differing tissue distribution; the role of α2 protein, derived from the same gene locus as TRα1, is unclear. Resistance to thyroid hormone alpha (RTHα) is characterised by tissue-specific hypothyroidism associated with near-nor
- PMID 26303090
- A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.
- Espiard S1, Savagner F1, Flamant F1, Vlaeminck-Guillem V1, Guyot R1, Munier M1, d'Herbomez M1, Bourguet W1, Pinto G1, Rose C1, Rodien P1, Wémeau JL1.
- The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.2015 Aug;100(8):2841-8. doi: 10.1210/jc.2015-1120. Epub 2015 Jun 2.
- CONTEXT: RTHα is a recently discovered resistance to thyroid hormone (RTH) due to mutation of THRA, the gene encoding TRα1, the thyroid hormone receptor. It has been described in a few patients with growth retardation, short stature, and a low free T4/free T3 (FT4/FT3) ratio.OBJECTIVE: A 27-year-o
- PMID 26037512
Japanese Journal
- 多数の先天性欠如歯がみられたアテトーゼ型脳性麻痺の姉妹例
- A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis
- Thyroid Ultrasound Findings in Children from Three Japanese Prefectures: Aomori, Yamanashi and Nagasaki
Related Links
- Symptoms of Thyroid agenesis including 34 medical symptoms and signs of Thyroid agenesis, alternative diagnoses, misdiagnosis, and correct diagnosis for Thyroid agenesis signs or Thyroid agenesis symptoms.
- Thyroid agenesis symptoms, causes, diagnosis, and treatment information for Thyroid agenesis (Thyroid agenesis) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and prognosis. ...
★リンクテーブル★
[★]
- 英
- thyroid agenesis
- 関
- 甲状腺発育不全
[★]
- 関
- thyroid gland、thyroidal