Congenital hypothyroidism
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Congenital hypothyroidism (CHT), previously known as cretinism, can be of thyroidal or central (hypothalamic/pituitary) origin and can have a widely diverse molecular aetiology.
Clinical presentation
Most children are asymptomatic at birth and are diagnosed after screening. In untreated CHTcongenital hypothyroidism, patients can present with short stature, disproportionately enlarged headheads, and/or developmental delay / intellectual disability 5.
Pathology
Aetiology
-
disorders in development of the thyroid gland
- thyroid is absent
-
under-developmentunderdevelopment with migration failure -
under-developmentunderdevelopment with normal migration - certain fetal goitres can also give hypothyroidism 4
-
disorders in thyroid hormone synthesis
- TSH
hypo-responsivenesshyporesponsiveness - defects in iodide transport from circulation into the thyroidcell
- defects in iodide transport from the thyroid cell to thefollicular lumen, often combined with inner ear deafness(Pendred syndrome)
- defects in the synthesis of hydrogen peroxide
- defects in the oxidation of iodide, iodination andiodothyronine synthesis
- defects in processes involved in the synthesis or degradation of thyroglobulin
- detects in iodine recycling
- TSH
-
central congenital hypothyroidism
- disorders in development and/or function of the
- hypothalamus
- pituitary gland
- both
- disorders in development and/or function of the
Radiographic features
Plain radiograph
- delayed skeletal maturation
- bone age can be assessed by the Greulich & Pyle method with a PA left hand radiograph
- bone
epiphysisepiphyses/ossification centres are absent or small- stippled epiphysis appearance
- cortical thickening
-<p><strong>Congenital hypothyroidism (CHT)</strong>, previously known as <strong>cretinism</strong>, can be of thyroidal or central (hypothalamic/pituitary) origin and can have a widely diverse molecular aetiology.</p><h4>Clinical presentation</h4><p>Most children are asymptomatic at birth and are diagnosed after screening. In untreated CHT patients can present with short stature, disproportionately enlarged head, and/or developmental delay / intellectual disability <sup>5</sup>.</p><h4>Pathology</h4><h5>Aetiology</h5><ul>- +<p><strong>Congenital hypothyroidism (CHT)</strong>, previously known as <strong>cretinism</strong>, can be of thyroidal or central (hypothalamic/pituitary) origin and can have a widely diverse molecular aetiology.</p><h4>Clinical presentation</h4><p>Most children are asymptomatic at birth and are diagnosed after screening. In untreated congenital hypothyroidism, patients can present with short stature, disproportionately enlarged heads, and/or developmental delay / intellectual disability <sup>5</sup>.</p><h4>Pathology</h4><h5>Aetiology</h5><ul>
-<li>under-development with migration failure</li>-<li>under-development with normal migration</li>- +<li>underdevelopment with migration failure</li>
- +<li>underdevelopment with normal migration</li>
-<li>TSH hypo-responsiveness</li>- +<li>TSH hyporesponsiveness</li>
-<li>delayed skeletal maturation<ul><li>bone age can be assessed by the <a href="/articles/bone-age-assessment">Greulich & Pyle method</a> with PA left hand radiograph</li></ul>- +<li>delayed skeletal maturation<ul><li>bone age can be assessed by the <a href="/articles/bone-age-assessment">Greulich & Pyle method</a> with a PA left hand radiograph</li></ul>
-<li>bone epiphysis/ossification centres are absent or small<ul><li>stippled epiphysis appearance</li></ul>- +<li>bone epiphyses/ossification centres are absent or small<ul><li>stippled epiphysis appearance</li></ul>
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