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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 ...
4 Treatment. 5 References. ... Signs and symptoms ... This is due to inability to produce thyroid hormones due to congenital absence of peroxidase or dehalogenase ...
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.
Congenital iodine deficiency has been almost eliminated in developed countries through iodine supplementation of food and by newborn screening using a blood test for thyroid function. [5] Treatment consists of lifelong administration of thyroxine (T4). Thyroxine must be dosed as tablets only, even to newborns, as the liquid oral suspensions and ...
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 ]
Thyroid diseases are highly prevalent worldwide, [10] [11] [12] and treatment varies based on the disorder. Levothyroxine is the mainstay of treatment for people with hypothyroidism, [13] while people with hyperthyroidism caused by Graves' disease can be managed with iodine therapy, antithyroid medication, or surgical removal of the thyroid ...
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.
[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.