Genetic regulation of thyroid development

Gillam, Mary P.; Kopp, Peter

doi:10.1097/00008480-200108000-00013

Cited by 53 publications

(32 citation statements)

References 23 publications

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“…The need for thyroid hormone at and after birth is well established: routine neonatal screening can identify infants with thyroid deficiencies, and very importantly this information allows treatment with replacement hormone in time to reduce subsequent neurological impairment. In countries with the resources for comprehensive screening, congenital hypothyroidism is detected in about 1 in 3500 newborns (1). Studies in animal models have identified a number of cellular migration and differentiation events in the postnatal brain that depend upon thyroid hormone (2).…”

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confidence: 99%

The Developing Brain and Maternal Thyroid Hormone: Finding the Links

Forrest

2004

Endocrinology

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The Developing Brain and Maternal Thyroid Hormone: Finding the Links

Forrest

2004

Endocrinology

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“…This requires normal development and function of the hypothalamic-pituitary-thyroid axis, as well as an adequate nutritional intake of iodine. In iodine sufficient regions, permanent congenital hypothyroidism affects about 1:3000 to 1:4000 newborns (1)(2)(3)(4). In about 85% of all cases, congenital hypothyroidism is associated with developmental defects that are referred to as thyroid dysgenesis.…”

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confidence: 99%

Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism

Vono-Toniolo

Kopp

2004

Arq Bras Endocrinol Metab

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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 nonsyndromic 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. RESUMO Mutações no Gene da Tireoglobulina e Outros Defeitos Genéticos Associados Com Hipotireoidismo Congênito.Hipotireoidismo congênito afeta cerca de 1:3.000-1:4.000 recém-nascidos. Atualmente, programas de triagem neonatal permitem o reconhecimento e tratamento precoces, evitando suas conseqüências desastrosas no desenvolvimento cerebral. Em cerca de 85% dos pacientes, o hipotireoidismo congênito está associado à defeitos no desenvolvimento da tireóide referidos como disgenesia tireoideana. A disgenesia tireoideana ocorre geralmente de forma esporádica; somente 2% dos casos apresentam caráter familial. Podem ser causados por mutações nos fatores de transcrição que são essenciais para o desenvolvimento e função das células foliculares tireoideanas. Hipoplasia da tireóide pode também resultar de resistência tireoideana ao TSH. Defeitos na síntese dos hormônios tireoideanos são referidos como disormonogênese tireoideana e concorrem para 10-15% dos casos de hipotireoidismo congênito. Os pacientes usualmente apresentam bócio, ao contrário da disgenesia tireoideana. Tipicamente, os defeitos que causam disormonogênese apresentam herança recessiva. Uma série de estudos recentes aumentou significativamente nosso entendimento dos mecanismos patogênicos do hipotireoidismo congênito, oferecendo

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“…The exact molecular mechanisms responsible are not clearly known, but studies have demonstrated the mutations of regulatory genes encoding for transcription factors -PAX-8, TTF-1 and TTF-2, which are essential for thyroid morphogenesis and differentiation may be responsible for abnormal migration of the gland. (7,8) In all the case series and reviews on the ectopic thyroid reported so far, a marked female preponderance has been observed. (5,9,10) In our series also we found female-to-male ratio of 5:2.…”

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confidence: 98%