[Thyroid hormonosynthesis disorders due to iodotyrosine-dehalogenase deficiency. Value of the D.I.T. test for the detection of heterozygotes].
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002986:Clinical Trials as Topic; D003241:Consanguinity; D004105:Diiodotyrosine / Q000652:urine; D005260:Female; D005808:Genes, Recessive; D006042:Goiter / Q000209:etiology; D006579:Heterozygote; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D007455:Iodine / Q000378:metabolism; D007457:Iodine Radioisotopes; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications*; D008722:Methods; D013960:Thyroid Function Tests; D013963:Thyroid Hormones / Q000096:biosynthesis*
D007457:Iodine Radioisotopes; D013963:Thyroid Hormones; D004105:Diiodotyrosine; D007455:Iodine
Trouble de l'hormonosynthése thyroïdienne par déficit en iodotyrosine-deshalogénase. Intérêt de l'épreuve de surcharge en D.I.T. pour le depistage des heterozygotes