title: [Newborn Screening Program for congenital hypothyroidism of the State of Santa Catarina, Brazil: etiological investigation in the first visit].
abstract: OBJECTIVE
  To evaluate the etiology of primary congenital hypothyroidism (PCH) identified in the Newborn Screening Program from the state of Santa Catarina, Brazil, from July 2007 to June 2009 in the first visit.
  
  
  METHODS
  A prospective study was performed in 45 patients with PCH. For the etiological diagnosis, history, physical examination, and additional tests (TSH, free thyroxine, thyroglobulin, bone age assessment, thyroid ultrasound) were carried out in the first visit.
  
  
  RESULTS
  The etiology was established in the first visit in 53.3% of cases. Thyroid dysgenesis represented 51.11% of the cases, from which 20% showed hypoplastic thyroid, 13.3% showed athyreosis, and 17.7% showed ectopic glands; 2.2% were diagnosed with dyshormonogenesis. Umbilical hernia was the most prevalent sign (48.89%) and 20% had no clinical manifestations. Patients with dysgenesis showed significant differences (p < 0.05) in terms of cesarean section delivery, delayed bone age, and very high serum TSH.
  
  
  CONCLUSIONS
  The diagnostic approach used at first visit for PCH patients may determine the etiology in 53.3% of cases. Half of patients had thyroid dysgenesis.
authors: Universidade Federal de Santa Catarina, Florianópolis, SC, Brasil. marilzaleal@brturbo.com
authors: Marilza Leal
authors: ML
authors: Nascimento
authors: Fernanda Hostim
authors: FH
authors: Rabello
authors: Masanao
authors: M
authors: Ohira
authors: Genoir
authors: G
authors: Simoni
authors: Edson
authors: E
authors: Cechinel
authors: Rose Marie Muller
authors: RM
authors: Linhares
authors: Paulo César Alves da
authors: PC
authors: Silva
mesh_terms: D000365:Age Determination by Skeleton; D001938:Brazil; D003409:Congenital Hypothyroidism / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D006554:Hernia, Umbilical / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D011320:Primary Health Care / Q000379:methods; D011446:Prospective Studies; D050033:Thyroid Dysgenesis / Q000175:diagnosis; D013972:Thyrotropin / Q000097:blood*
chemical_list: D013972:Thyrotropin