منابع مشابه
Genetics of congenital hypothyroidism.
Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically ...
متن کاملCongenital Hypothyroidism
Congenital hypothyroidism is the most frequent congenital endocrine disorder and prevent‐ able cause of mental retardation. The remarkable irreversible mental damage can be avoided by the replacement therapy introduced before the age of 3 weeks. Therefore a screening program implemented in the early seventies to pick up the affected babies on the first weeks of life [1,2]. After pilot studies s...
متن کاملThe Importance of Screening in Congenital Hypothyroidism
Introduction: Congenital hypothyroidism is the most common cause of preventable mental retardation in children. However, early diagnosis and treatment improve the prognosis of mental retardation. Clinical diagnosis of Congenital hypothyroidism is not also evident in the neonatal period. Therefore, screening all newborns for early diagnosis and treatment is essential. This paper aimed to analyze...
متن کاملCongenital hypothyroidism
Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and...
متن کاملCongenital Hypothyroidism
The thyroid forms as a midline outpouching from between the first and second pharyngeal pouches and descends into the neck just above the developing lung bud between 4 and 7 weeks gestation. The parathyroid glands condense from the third and fourth pharyngeal pouches and move into the migrated thyroid tissue. C cells are derived from separate neuroectodermal tissue in the ultimobranchial body. ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2005
ISSN: 1468-6244
DOI: 10.1136/jmg.2004.024158