title: Congenital hypothyroidism: recommendations of the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism.
abstract: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, with an incidence of 1:2,000 to 1:4,000 live births and it is a leading preventable mental retardation. Neonatal Screening Programs allow early identification of the disease and the adequate treatment of affected children can avoid the complications related to deprivation of the hormone. Most cases of primary congenital hypothyroidism (85%) are due to thyroid dysgenesis (ectopia, hypoplasia or agenesis) while the remaining result from defects in hormone synthesis. Affected children (> 95%) usually have no symptoms suggesting the disease at birth. The most frequent symptoms and signs are prolonged neonatal jaundice, hoarse cry, lethargy, slow movements, constipation, macroglossia, umbilical hernia, large fontanelle, hypotonia and dry skin. Around the world, various strategies are used for the screening of the CH. In Brazil, screening for CH is mandatory by law and usually done by serum TSH in dried blood collected from the heel. The recommended age for performing this test is after 48 hours of life until the 4th day. Diagnostic confirmation is required dosing TSH and free T4 or total T4 in serum.
authors.affiliation: Divisão de Endocrinologia e Metabologia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil. lmzmacie@fmrp.usp.br
authors.forename: Léa Maria Zanini
authors.initials: LM
authors.lastname: Maciel
authors.forename: Edna Teruko
authors.initials: ET
authors.lastname: Kimura
authors.forename: Célia Regina
authors.initials: CR
authors.lastname: Nogueira
authors.forename: Glaucia M F S
authors.initials: GM
authors.lastname: Mazeto
authors.forename: Patrícia Künzle Ribeiro
authors.initials: PK
authors.lastname: Magalhães
authors.forename: Marilza Leal
authors.initials: ML
authors.lastname: Nascimento
authors.forename: Suzana
authors.initials: S
authors.lastname: Nesi-França
authors.forename: Sandra E
authors.initials: SE
authors.lastname: Vieira
mesh_terms: D001938:Brazil; D002648:Child; D003409:Congenital Hypothyroidism / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D019317:Evidence-Based Medicine / Q000592:standards*; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D011785:Quality Assurance, Health Care; D012016:Reference Values; D050033:Thyroid Dysgenesis / Q000150:complications; D013960:Thyroid Function Tests; D013972:Thyrotropin / Q000097:blood*; D013974:Thyroxine / Q000097:blood* / Q000627:therapeutic use
chemical_list: D013972:Thyrotropin; D013974:Thyroxine