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Congenital hypothyroidism (CH) is thyroid hormone deficiency present at birth. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability. Infants born with congenital hypothyroidism may show no effects, or may display mild effects that often go unrecognized as ...
Pendred syndrome is a genetic disorder leading to congenital bilateral (both sides) sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism (decreased thyroid gland function). There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of hypothyroidism.
Thyroid dysgenesis is a cause of congenital hypothyroidism [1] where the thyroid is missing (thyroid agenesis), ectopic, or severely underdeveloped.It should not be confused with iodine deficiency, or with other forms of congenital hypothyroidism, such as thyroid dyshormonogenesis, where the thyroid is present but not functioning correctly.
People with hypothyroidism often have no or only mild symptoms. Numerous symptoms and signs are associated with hypothyroidism and can be related to the underlying cause, or a direct effect of not having enough thyroid hormones. [15] [16] Hashimoto's thyroiditis may present with the mass effect of a goiter (enlarged thyroid gland). [15]
Congenital iodine deficiency syndrome (CIDS), also called cretinism, [2] is a medical condition present at birth marked by impaired physical and mental development, due to insufficient thyroid hormone production (hypothyroidism) often caused by insufficient dietary iodine during pregnancy.
1 Signs and symptoms. 2 ... Patients develop hypothyroidism with a ... This is due to inability to produce thyroid hormones due to congenital absence of peroxidase ...
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[25] [26] As both hyper- and hypothyroidism disrupts muscle glycogen metabolism, it is important to keep in mind differential diagnoses and their comorbidities when trying to determine whether signs and symptoms are either primary or secondary disease.