Molecular Pathology of Congenital Pituitary Hypothyroidism

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Molecular genetic defects in congenital hypothyroidism.

Recently molecular genetic defects in some cases of congenital hypothyroidism (CH) as well as of rare cases of central hypothyroidism have been identified. These studies have led to the description of so far unexplained forms of these disorders. In some patients with CH early diagnosis by newborn screening and early treatment was not able to lead to a normal mental development. This could subse...

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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...

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The 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...

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Congenital 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...

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Congenital 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: Clinical Pediatric Endocrinology

سال: 1994

ISSN: 0918-5739,1347-7358

DOI: 10.1297/cpe.3.supple5_255