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Clinical Relevance of Molecular Diagnosis in Patients with Congenital Hypothyroidism
(OMICS International, 2017-05)
Congenital hypothyroidism, defined as the functional deficiency of thyroid hormones present at birth, occurs in approximately 1: 2,000 to 4,000 newborns. Thyroid hormones play an essential role in the maturation of the ...
Importance of molecular genetic analysis in the diagnosis and classification of congenital hypothyroidism
(Springer, 2014-03)
Congenital hypothyroidism (CH) is the most frequent endocrine disease in infants, with the prevalence ratio in the range of 1:2,000–1:4,000 newborns.
Incidencia de Hipotiroidismo Congénito en 14 Regiones Sanitarias del Paraguay
(Sociedad Paraguaya de Pediatría, 2009)
Congenital hypothyroidism: A diagnosis not to forget
(2012)
Summary: Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Since 1994, Chile has a national plan for mass screening all newborns to diagnose the disease. Currently, the CH incidence ...
Cluster of cases of congenital feline goitrous hypothyroidism in a single hospital
(Wiley, 2020)
Objectives To describe the clinicopathological findings and outcomes of cases of feline congenital hypothyroidism diagnosed in a single veterinary hospital in Santiago, Chile. Materials and Methods Medical records were ...
Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection
(Karger, 2017-10)
Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, ...
Mutations of the thyroglobulin gene and its relevance to thyroid disorders
(LIPPINCOTT WILLIAMS & WILKINS, 2009)
Purpose of review To perform an update review on thyroglobulin gene mutations associated with congenital hypothyroidism, thyroid cancer, and autoimmunity. Recent findings Forty-two thyroglobulin mutations have been identified ...
Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism
(Faculdade De Odontologia De Bauru - USP, 2009)
The Neonatal Screening for Inborn Errors of Metabolism of the Association of Parents and Friends of Special Needs Individuals (APAE) - Bauru, Brazil, was implanted and accredited by the Brazilian Ministry of Health in 1998. ...
A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome
(Lippincott Williams & WilkinsPhiladelphiaEUA, 2000)
Avaliação ultrassonográfica de crianças com hipotireoidismo congênitoSonographic evaluation of children with congenital hypothyroidism
(Colégio Brasileiro de Radiologia e Diagnóstico por Imagem, 2015)