Cretinism

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CRETINISM

Overview
Etiology

Pathogenesis

Congenital hypothyroidism [developmental failure of


thyroid formation (thyroid dysgenesis); defect in
thyroxine (T4) synthesis*; or dietary deficiency of iodine
(not common in USA now due to iodinated salt)]
Profound lack of thyroid hormone in a developing child
(includes teenagers); thyroid hormone acts
synergistically/permissively with growth
hormone/factors that act directly on bone (indirect
effect on growth); thyroid hormone is required for
normal synthesis and secretion of growth hormone **

Clinical Significance
Diagnosis
Signs and
Symptoms

Complications

Irreversible mental retardation; pallor; protuberant


abdomen; enlarged protruding tongue (macroglossia);
edematous face and course facial features (wide-set
eyes, broad nose); dry rough skin; delayed epiphyseal
closure (short stature); spasticity and motor
incoordination
Untreated leads to a form of dwarfism (short stature
due to deficient growth hormone secretion)

Treatment and
Management
* Recall, T4 is the inactive form (prohormone) and MC form of thyroid

hormone found in the blood; T3 is the active form of thyroid hormone. The
thyroid gland concentrates iodine into iodinate tyrosine residues in
thyroglobulin to ultimately form T4 and T3 (thyroid hormones)
** Thyroid hormone does not affect PTH, cortisol, iron or selenium

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