甲状腺形成異常
WordNet
- suggestive of a thyroid disorder; "thyroid personality"
- of or relating to the thyroid gland; "thyroid deficiency"; "thyroidal uptake" (同)thyroidal
- infertility between hybrids
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）』「2013/10/27 13:50:18」(JST)
[Wiki en表示]
| Thyroid dysgenesis |
| Classification and external resources |
| OMIM |
218700 |
| MeSH |
D050033 |
Thyroid agenesis (or thyroid dysgenesis) 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 where the thyroid is present but not functioning correctly.
Congenital hypothyroidism caused by thyroid dysgenesis can be associated with PAX8.[2]
Ectopic thyroid[edit]
An ectopic thyroid 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[edit]
- ^ 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. ed.). Philadelphia: W.B. Saunders. pp. 11–12. ISBN 0721690033.
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Congenital endocrine disease (Q89.1–Q89.2, 759.1–759.2)
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| Pancreas |
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Hypothalamic/
pituitary axes
+parathyroid |
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Pituitary
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- Congenital hypopituitarism
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Thyroid
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- Persistent thyroglossal duct
- Thyroglossal cyst
- Congenital hypothyroidism: Thyroid dysgenesis
- Thyroid dyshormonogenesis
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Parathyroid
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- Congenital absence of parathyroid
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Adrenal
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Gonads
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- see congenital reproductive
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noco (d)/cong/tumr, sysi/epon
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proc, drug (A10/H1/H2/H3/H5)
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UpToDate Contents
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English Journal
- A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect.
- Baş VN, Aycan Z, Cangul H, Kendall M, Ağladıoğlu SY, Cetinkaya S, Maher ER.AbstractAbstract The most common congenital endocrine disorder is congenital hypothyroidism (CH), which can lead to mental retardation if untreated. Majority of the patients have been found to have defects in thyroid development and migration disorders (dysgenesis), and the remaining ones have thyroid hormone synthesis defects (dyshormonogenesis). One of the most common mechanisms to cause dyshormonogenesis is a defect in the thyroid peroxidase (TPO) enzyme. In familial cases, mutations in the TPO gene are fairly prevalent. To date, more than 80 mutations have been identified, which result in variably decreasing TPO bioactivities. Clinical manifestations of TPO defects are typically permanent CH and with or without goiter. In this report, we presented two children with CH who were born to consanguineous parents and were homozygous carriers of a missense (G319R) TPO mutation, the mutation segregated with the disease status in the families confirming its pathogenicity. G319R mutation seemed to be a common cause of CH in Turkish population, which could originate from a common founder ancestor. Moreover, our results also confirmed the phenotypic variability associated with different TPO mutations.
- Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2014 Mar 1;27(3-4):383-7. doi: 10.1515/jpem-2013-0203.
- Abstract The most common congenital endocrine disorder is congenital hypothyroidism (CH), which can lead to mental retardation if untreated. Majority of the patients have been found to have defects in thyroid development and migration disorders (dysgenesis), and the remaining ones have thyroid hormo
- PMID 24158420
- NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients.
- Shetty VB, Kiraly-Borri C, Lamont P, Bikker H, Choong CS.AbstractAbstract Brain-lung-thyroid syndrome (BLTS) characterized by congenital hypothyroidism, respiratory distress syndrome, and benign hereditary chorea is caused by thyroid transcription factor 1 (NKX2-1/TTF1) mutations. We report the clinical and molecular characteristics of four cases presenting with primary hypothyroidism, respiratory distress, and neurological disorder. Two of the four patients presenting with the triad of BLTS had NKX2-1 mutations, and one of these NKX2-1 [c.890_896del (p.Ala327Glyfs*52)] is a novel variant. The third patient without any identified NKX2-1 mutations was a carrier of mitochondrial mutation; this raises the possibility of mitochondrial mutations contributing to thyroid dysgenesis. Although rare, the triad of congenital hypothyroidism, neurological, and respiratory signs is highly suggestive of NKX2-1 anomalies. Screening for NKX2-1 mutations in patients with thyroid, lung, and neurological abnormalities will enable a unifying diagnosis and genetic counseling for the affected families. In addition, identification of an NKX2-1 defect would be helpful in allaying the concerns about inadequate thyroxine supplementation as the cause of neurological defects observed in some children with congenital hypothyroidism.
- Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2014 Mar 1;27(3-4):373-8. doi: 10.1515/jpem-2013-0109.
- Abstract Brain-lung-thyroid syndrome (BLTS) characterized by congenital hypothyroidism, respiratory distress syndrome, and benign hereditary chorea is caused by thyroid transcription factor 1 (NKX2-1/TTF1) mutations. We report the clinical and molecular characteristics of four cases presenting with
- PMID 24129101
- Evolution of Thyroid Function in Preterm Infants Detected by Screening for Congenital Hypothyroidism.
- Vigone MC1, Caiulo S1, Di Frenna M1, Ghirardello S2, Corbetta C3, Mosca F2, Weber G4.Author information 1Department of Pediatrics, Vita-Salute San Raffaele University, IRCCS San Raffaele Hospital, Milan, Italy.2Neonatal Intensive Care Unit Department of Clinical Sciences and Community Health, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.3Regional Newborn Screening Laboratory of Lombardia Region, Children's Hospital V, Buzzi, Milan, Italy.4Department of Pediatrics, Vita-Salute San Raffaele University, IRCCS San Raffaele Hospital, Milan, Italy. Electronic address: weber.giovanna@hsr.it.AbstractOBJECTIVE: To determine the evolution of congenital hypothyroidism in preterms and the clinical features of permanent forms.
- The Journal of pediatrics.J Pediatr.2014 Feb 8. pii: S0022-3476(13)01594-1. doi: 10.1016/j.jpeds.2013.12.048. [Epub ahead of print]
- OBJECTIVE: To determine the evolution of congenital hypothyroidism in preterms and the clinical features of permanent forms.STUDY DESIGN: We retrospectively evaluated 24 preterm children detected by newborn screening for congenital hypothyroidism: first screening with blood-thyroid stimulating hormo
- PMID 24518164
Japanese Journal
- 先天性甲状腺疾患と遺伝子異常 (内分泌) -- (臨床分野での進歩)
- A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis
- , , , , , , , ,
- Endocrine Journal 61(1), 19-23, 2014
- … Although it is well known that RET mutation causes multiple endocrine neoplasia type 2A (MEN2A), thus far only 3 individuals have been reported to have MEN2A and renal agenesis/dysgenesis. … A 48-year-old woman underwent total thyroidectomy with regional lymph node dissection in our department for medullary thyroid carcinoma. …
- NAID 130004443932
- IDENTIFICATION OF NOVEL GENETIC MUTATIONS IN JAPANESE PATIENTS WITH SEVERE CONGENITAL HYPOTHYROIDISM
- Adachi Hiroyuki,Takahashi Ikuko,Arai Hirokazu [他],Takahashi Tsutomu
- 秋田医学 40(2), 71-78, 2013-11-21
- … Among the severely affected subjects, 60% had thyroid dysgenesis (TD), while for patients with initial TSH upon screening <20 mU/l only 12% had TD. …
- NAID 110009658219
Related Links
- Thyroid dysgenesis. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is provided. ... Reported ...
- Thyroid dysgenesis symptoms, causes, diagnosis, and treatment information for Thyroid dysgenesis (Thyroid agenesis) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and prognosis. ...
★リンクテーブル★
[★]
- 英
- thyroid dysgenesis
- 関
- 甲状腺形成異常症、甲状腺形成異常、甲状腺形成不全、甲状腺無形成
[★]
- 英
- thyroid dysgenesis
- 関
- 甲状腺発育不全、甲状腺形成異常症、甲状腺形成異常
[★]
- 英
- thyroid dysgenesis
- 関
- 甲状腺発育不全、甲状腺形成異常症、甲状腺形成不全
[★]
- 英
- thyroid dysgenesis
- 関
- 甲状腺発育不全、甲状腺形成異常、甲状腺形成不全
[★]
甲状腺無形成
- 関
- thyroid dysgenesis
[★]
異形成、形成不全、形成異常、形成不全症、形成異常症、発育異常、異発生
- 関
- aplasia、aplastic、dysgenetic、dysgenic、dysplasia、dysplastic、heteroplasia、heteroplasmy、hypoplasia、malformation、metaplasia、metaplastic
[★]
- 関
- thyroid gland、thyroidal