Thyroid hormone resistance detected by routine neonatal screening
نویسندگان
چکیده
منابع مشابه
Thyroid hormone resistance detected by routine neonatal screening.
We report the clinical and laboratory findings, and molecular analysis of a Brazilian patient with resistance to thyroid hormone syndrome (RTH) detected by neonatal screening. The index case was born at term by normal delivery with 2,920 g and 45 cm. TSH of the neonatal screening test performed on the 5(th) day of life was of 13.1 µU/mL (cut-off = 10 µU/mL). In a confirmatory test, serum TSH le...
متن کامل[Thyroid hormone resistance syndromes].
Thyroid hormone resistance syndromes are a group of genetic conditions characterized by decreased tissue sensitivity to thyroid hormones. Three syndromes, in which resistance to hormone action is respectively due to mutations in the gene encoding for thyroid hormone receptor TRβ, impaired T4 and T3 transport, and impaired conversion of T4 to T3 mediated by deiodinases. An updated review of each...
متن کاملThyroid hormone resistance.
Thyroid hormone resistance (THR) is a rare syndrome of reduced end organ sensitivity. Patients with THR have elevated serum free thyroxine (FT4), free triiodothyronine (FT3), but normal or slightly elevated serum thyrotropin values. The characteristic clinical feature is goitre without symptoms and metabolic consequences of thyroid hormone excess. THR can be classified on the basis of tissue re...
متن کاملThyroxine binding globulin excess detected by neonatal screening
Inherited thyroxine binding globulin (TBG) disorder can be identified incidentally or through neonatal screening test. TBG excess is characterized by high levels of thyroxine (T4) but normal level of free T4 (fT4), while TBG deficiency presents with low T4 levels and normal fT4 levels. A 27-day-old newborn was brought to the hospital because of hyperthyroxinemia detected by neonatal screening. ...
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We have undertaken routine ultrasound screening for neonatal hip instability in Coventry since June 1989. Of the 14 050 babies scanned during the first three years, 847 (6%) had ultrasound abnormalities. A grading system, based on the percentage of femoral head coverage, is presented. The proportion of abnormal hips decreased gradually so that by nine weeks, 90% had normal ultrasound appearance...
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ژورنال
عنوان ژورنال: Arquivos Brasileiros de Endocrinologia & Metabologia
سال: 2010
ISSN: 0004-2730
DOI: 10.1590/s0004-27302010000800010