title: [Papillary thyroid carcinoma in a child with congenital dyshormonogenetic hypothyroidism. Case report].
abstract: BACKGROUND
  Papillary thyroid carcinoma (PTC) is a rare childhood disease. The development of PTC in dyshormonogenetic congenital hypothyroidism (CH) is infrequent, with very few case reports in literature.
  
  
  OBJECTIVE
  To report a case of PTC in a boy with dyshormonogenetic CH without goitre and exposed to ionising radiation. To evaluate relationships between these factors and development of PTC.
  
  
  METHODS
  We present a boy with dyshormonogenetic CH since birth. Early hormonal substitution was initiated, with subsequent normal levels of thyrotropin and thyroid hormones. He has also congenital cardiomyopathy, exposed to interventional treatment with 10 heart catheterisations, and approximately 26 chest X-rays at paediatric doses. A thyroid nodule was found in thyroid echography at the age of 6 years old. Fine needle aspiration biopsy confirmed high probability of thyroid carcinoma (Bethesda 5). The pre-surgical thorax and cerebral scan showed no evidence of metastasis. The patient underwent total thyroidectomy. Pathological examination revealed a 0.5cm papillary thyroid micro-carcinoma in the right lobe, with no evidence of dissemination.
  
  
  CONCLUSIONS
  Genetic mutations and radiation exposure may play an important role in the development of PTC. There may be common pathways between dyshormonogenetic CH and thyroid carcinoma that need further investigation.
authors.affiliation: Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
authors.forename: María José
authors.initials: MJ
authors.lastname: Orellana
authors.affiliation: Servicio de Cirugía, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile.
authors.forename: Angelo
authors.initials: A
authors.lastname: Fulle
authors.affiliation: Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
authors.forename: Diego
authors.initials: D
authors.lastname: Carrillo
authors.affiliation: Servicio de Anatomía Patológica, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile.
authors.forename: Lucía
authors.initials: L
authors.lastname: Escobar
authors.affiliation: Servicio de Cirugía Infantil, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile.
authors.forename: Alicia
authors.initials: A
authors.lastname: Ebensperger
authors.affiliation: Servicio de Cirugía Oncológica y de Cabeza y Cuello, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile.
authors.forename: Raúl
authors.initials: R
authors.lastname: Martínez
authors.affiliation: Servicio de Endocrinología Infantil, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile. Electronic address: carmikari@yahoo.com.
authors.forename: Hana
authors.initials: H
authors.lastname: Rumié Carmi
mesh_terms: D044963:Biopsy, Fine-Needle; D002277:Carcinoma / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D002291:Carcinoma, Papillary; D002648:Child; D003409:Congenital Hypothyroidism / Q000150:complications* / Q000628:therapy; D006801:Humans; D008297:Male; D000077273:Thyroid Cancer, Papillary; D013963:Thyroid Hormones / Q000008:administration & dosage; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D013965:Thyroidectomy / Q000379:methods*
chemical_list: D013963:Thyroid Hormones
keywords: Children; Congenital hypothyroidism; Cáncer de tiroides; Hipotiroidismo congénito; Ionising radiation; Niños; Radiación ionizante; Thyroid cancer