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Congenital hypothyroidism is the most common preventable cause of intellectual disability. Few treatments in the practice of medicine provide as large a benefit for as small an effort. The developmental quotient (DQ, as per Gesell Developmental Schedules ) of children with hypothyroidism at age 24 months that have received treatment within the ...
Infants with sporadic congenital hypothyroidism show T4 concentrations in the umbilical cord suggesting the mother is still providing 25-50 percent of T4. If these infants are not screened soon after birth for their hypothyroidism and treated, the infants can become permanently intellectually disabled , since they can’t meet their bodies ...
In hypothyroidism the fast twitch muscle fiber is converted to slow twitch fiber, causing the slower reflex or hung up reflex. This may occur as a result of reduction in muscle mitochondrial oxidative capacity and beta-adrenergic receptors, as well as the induction of an insulin-resistant state, due to decrease in thyroid hormones.
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.
The American Academy of Pediatrics (AAP) is the largest professional association of pediatricians in the United States. [1] It is headquartered in Itasca, Illinois , and maintains an office in Washington, D.C. [ 2 ] The AAP has published hundreds of policy statements, ranging from advocacy issues to practice recommendations.
The most commonly included disorders of the endocrine system are congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH). [20] Testing for both disorders can be done using blood samples collected on the standard newborn screening card. Screening for CH is done by measuring thyroxin (T4), thyrotropin (TSH) or a combination of ...
Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, intellectual disability, and postnatal growth retardation. [1] [2] Other symptoms include transient hypothyroidism, macular degeneration, and torticollis. [3]
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.