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Deficient nutritional iodine intake
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Iodine deficiency disorders
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All ages:
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• Goiter
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Mother/fetus:
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• Abortion
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• Stillbirth
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• Congenital anomalies
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• Perinatal mortality
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Newborn:
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• Infant mortality
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• Cretinism with neurological deficits and mental retardation
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Child and adolescent:
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• Growth retardation and delayed puberty
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Child, adolescent and adult:
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• Impaired mental function
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• Hypothyroidism
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• Increased risk to develop iodide induced-hyperthyroidism and toxic nodular goiter after exposure to iodine
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Abnormal basal iodide uptake
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NIS mutations (autosomal recessive)
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Congenital hypothyroidism, typically with goiter. Iodide-trapping defect with little or no uptake of radioactive iodide both at the thyroid and salivary gland level
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Perchlorate, thiocyanate and nitrates
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Increased risk of goiter development and hypothyroidism, specially in iodine deficient populations
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Goitrogens (soy and other flavonoids, glucosinolates and cyanogenic glucosides)
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Increased risk of goiter development and hypothyroidism in iodine deficient populations
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Apical iodide efflux
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Pendred syndrome. Mutations in the SLC26A4 gene (autosomal recessive)
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Sensorineural hearing loss, variable phenotype of goiter and hypothyroidism and partial organification defect
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Congenital hypothyroidism with atrophic thyroid gland associated with SLC26A4 mutations (autosomal recessive)
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Congenital hypothyroidism
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Organification and coupling
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Tg gene mutations (autosomal recessive)
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Congenital hypothyroidism and/or variable degrees of goiter and hypothyroidism with low Tg levels
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TPO gene mutations (autosomal recessive)
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Congenital hypothyroidism and/or variable degrees of goiter and hypothyroidism with partial or total organification defects
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Mutations in DUOX2 or DUOXA2 (autosomal recessive or dominant)
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Transient or permanent congenital hypothyroidism
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Anti-thyroid medications (i.e. PTU, methimazole, carbimazole)
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Medication-induced hypothyroidism
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Recycling of iodide
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Mutations in DEHAL1 (autosomal recessive)
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Congenital hypothyroidism, goiter, increased MIT and DIT serum levels and severe urinary loss of MIT and DIT
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Thyroid hormone degradation exceeds thyroid synthetic capacity
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Overexpression of D3 in hemangiomas and gastrointestinal stromal tumors
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Consumptive hypothyroidism with elevated rT3 and resistance to treatment with physiological doses of levothyroxine
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Increased stimulation or constitutive activity of the TSHR or downstream pathways
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TSHR stimulating immunoglobulins
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Graves’ disease
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Transient congenital hyperthyroidism
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TSHR activating mutations
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Sporadic congenital or autosomal dominant familial non-autoimmune hyperthyroidism (germline mutations)
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Toxic adenomas (somatic mutations)
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Pregnancy
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hCG-induced gestational hyperthyroidism
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Somatic, activating mutations of Gsα
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Toxic nodular hyperthyroidism and hyperthyroidism in McCune Albright syndrome
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Decreased stimulation or inactivation of the TSHR or downstream pathways
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Presence of TSHR blocking immunoglobulins
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Hypothyroidism
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Inactivating mutations of the TSHR (autosomal recessive)
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Resistance to TSH with overt or compensated hypothyroidism
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Inactivating Gsα mutations
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Hypothyroidism in the context of pseudohypoparathyroidism type Ia
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Iodide mediated alterations in thyroid function
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Iodine containing solutions
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Transient hypothyroidism (Wolff-Chaikoff effect)
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In iodine deficiency: Hyperthyroidism (Jod-Basedow)
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Iodine containing contrast agents (iodine containing IV contrasts)
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Transient hypothyroidism (Wolff-Chaikoff effect)
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In iodine deficiency: Hyperthyroidism (Jod-Basedow)
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Amiodarone
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Amiodarone induced thyrotoxicosis (AIT): type 1: iodine inducedthyrotoxicosis, Jod-Basedow type 2: thyroiditis
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Amiodarone induced hypothyroidism (AMH); often associated with underlying autoimmune thyroid disease
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Other defects in thyroid hormone release
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Lithium
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Hypothyroidism due to decrease release of T4
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