Angeborene Hypothyreose

Congenital
hypothyroidism. Radiograph of the left lower extremity of two infants, showing absence of the distal femoral epiphysis on left. Radiograph of the left lower extremity of two infants. The infant on the left with congenital hypothyroidism demonstrates absence of the distal femoral and proximal tibial epiphyses, while in the normal infant on the right the distal femoral epiphysis is present.
ojrd.biomedcentral.com • CC-by-2.0
Congenital
hypothyroidism • Congenital hypothyroidism - agenesis of thyroid gland - Ganzer Fall bei Radiopaedia
Sheikh Y, Congenital hypothyroidism - agenesis of thyroid gland. Case study, Radiopaedia.org (Accessed on 20 Mar 2023) https://doi.org/10.53347/rID-72525 • CC by-nc-sa 3.0 (modified)
Preschooler
with short stature. AXR AP shows bilateral absence of the femoral ossification centers.The diagnosis was delayed skeletal maturation due to congenital hypothyroidism.
pediatricimaging.org • CC-by-nc-sa 4.0
Preschooler
with short stature. AP radiograph of the hand shows an absence of any ossification centers in the hand.The diagnosis was delayed skeletal maturation due to congenital hypothyroidism.
pediatricimaging.org • CC-by-nc-sa 4.0
Preschooler
with short stature. Lateral radiograph of the spine shows increased width of the intervertebral disc spaces in the spine.The diagnosis was congenital hypothyroidism.
pediatricimaging.org • CC-by-nc-sa 4.0
Preschooler
with short stature. Lateral radiograph of the skull shows a relatively enlarged sella and multiple Wormian bones.The diagnosis was congenital hypothyroidism.
pediatricimaging.org • CC-by-nc-sa 4.0
Radiopaedia • CC-by-nc-sa 3.0 • de

Congenital hypothyroidism (CHT), previously known as cretinism, can be of thyroidal or central (hypothalamic/pituitary) origin and can have a widely diverse molecular etiology.

Clinical presentation

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 .

Pathology

Etiology
  • disorders in development of the thyroid gland
    • thyroid is absent
    • underdevelopment with migration failure
    • underdevelopment with normal migration
    • certain fetal goiters can also give hypothyroidism
  • disorders in thyroid hormone synthesis
    • TSH hyporesponsiveness
    • defects in iodide transport from circulation into the thyroid
      cell
    • defects in iodide transport from the thyroid cell to the
      follicular lumen, often combined with inner ear deafness
      (Pendred syndrome)
    • defects in the synthesis of hydrogen peroxide
    • defects in the oxidation of iodide, iodination and
      iodothyronine synthesis
    • defects in processes involved in the synthesis or degradation of thyroglobulin
    • detects in iodine recycling
  • central congenital hypothyroidism
    • disorders in development and/or function of the
      • hypothalamus
      • pituitary gland
      • both

Radiographic features

Plain radiograph
  • delayed skeletal maturation
  • bone epiphyses/ossification centers are absent or small
    • stippled epiphysis appearance
  • cortical thickening
Siehe auch:
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Assoziationen und Differentialdiagnosen zu Angeborene Hypothyreose: