Congenital Hypothyroidism
Mostrando 1-12 de 73 artigos, teses e dissertações.
-
1. Impact of the reduction in TSH cutoff level to 6 mIU/L in neonatal screening for congenital hypothyroidism in Santa Catarina: final results
ABSTRACT Oubjective: To assess the implications of changing the cutoff level of TSH from 10 to 6 mIU/L. Subjects and methods: The study population was constituted by 74.123 children screened for congenital hypothyroidism by the National Screening Program in Santa Catarina, from March 2011 to February 2012. The cutoff of TSH was 6 mIU/L. If TSH between 6-10
Arch. Endocrinol. Metab.. Publicado em: 2020-12
-
2. Neonatal Screening for Congenital Hypothyroidism in Nicaragua: Audit of a Cord-blood Thyrotropin-based Program (2005-2015)
Abstract The aim of this study is to evaluate the Nicaraguan screening program for congenital hypothyroidism in terms of coverage and effectiveness of detection and confirmation of cases with the condition throughout a decade. Thyrotropin was quantified in cord-blood samples by a validated ELISA and a cut-off of 20 mU/l was applied. Coverage, positive predic
J. inborn errors metab. screen.. Publicado em: 29/08/2019
-
3. Influence of socioeconomic factors on the perception of cochlear-vestibular symptoms and adherence to the treatment of congenital hypothyroidism
Resumo Objetivos: verificar se existe associação entre fatores socioeconômicos e adesão ao tratamento no hipotireoidismo congênito e verificar se existe associação entre fatores socioeconômicos e sintomas vestibulococleares percebidos pelos pais / cuidadores de crianças diagnosticadas com hipotireoidismo congênito. Métodos: estudo transversal, e
Rev. Bras. Saude Mater. Infant.. Publicado em: 22/07/2019
-
4. Rare Diseases in Uruguay: Focus on Infants with Abnormal Newborn Screening
Abstract Introduction: Newborn Screening Program (NBS) in Uruguay includes congenital hypothyroidism (CHT), phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), and Congenital Hearing Loss (CHL). Objetives: This study describe the epidemiological characteristics of newb
J. inborn errors metab. screen.. Publicado em: 15/07/2019
-
5. Evaluation of TSH Levels in the Program of Congenital Hypothyroidism Newborn Screening in a Pilot Study of Preterm Newborns in Bogotá, Colombia
Abstract Introduction: Preterm infants (<37 weeks of gestation) have low levels of thyroid hormones due to multiple factors. Objective: To evaluate levels of thyroid-stimulation hormone (TSH) in the program congenital hypothyroidism (CH) newborn screening in a sample of preterm infants in the city of Bogotá, Colombia. Methods: The Secretaría de Salud Di
J. inborn errors metab. screen.. Publicado em: 19/06/2019
-
6. A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING
RESUMO Objetivo: Descrever o caso de um paciente com hipotireoidismo congênito central (HCC) por conta de uma mutação recorrente no gene TSHB, bem como realizar um estudo genético de sua família. Descrição do caso: Relato de caso de um menino de 5 meses de idade com diagnóstico tardio de HCC isolado, em quem a análise molecular foi realizada 12
Rev. paul. pediatr.. Publicado em: 03/06/2019
-
7. SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba: An Overview of the First 30 Years
Abstract The ultramicroanalytic system (SUMA), created in the 1980s, is a complete system of reagents and instrumentation to perform ultramicroassays combining the sensitivity of the micro-enzyme-linked immunosorbent assay (ELISA) tests with the use of ultramicrovolumes. This technology permitted establishing large-scale newborn screening programs (NSPs) for
J. inborn errors metab. screen.. Publicado em: 30/05/2019
-
8. Mechanisms involved in hearing disorders of thyroid ontogeny: a literature review
ABSTRACT Endocochlear, retrocochlear and/or central origin hearing damage may be related to the absence of appropriate levels of thyroid hormone during morphogenesis and/or auditory system development. Hearing disorders related to the thyroid are not well studied, despite speculation on the pathophysiological mechanisms. The objective of this review was to c
Arch. Endocrinol. Metab.. Publicado em: 18/09/2017
-
9. Timing of thyroid ultrasonography in the etiological investigation of congenital hypothyroidism
ABSTRACT Objectives To describe the findings of thyroid ultrasonography (T-US), its contribution to diagnose congenital hypothyroidism (CH) and the best time to perform it. Subjects and methods Forty-four patients with CH were invited to undergo T-US and 41 accepted. Age ranged from 2 months to 45 years; 23 patients were females. All were treated with L-
Arch. Endocrinol. Metab.. Publicado em: 13/02/2017
-
10. Coexistence of resistance to thyroid hormone and ectopic thyroid: ten-year follow-up
SUMMARY Resistance to thyroid hormone (RTH) coexisting with ectopic thyroid is rare. Here we report a case of RTH with ectopic thyroid. A ten-year-old girl had been misdiagnosed as congenital hypothyroidism and treated with levothyroxine since she was born. Ten-year follow-up showed that the elevated thyrotropin was never suppressed by levothyroxine and no s
Arch. Endocrinol. Metab.. Publicado em: 10/10/2016
-
11. Evolution to permanent or transient conditions in children with positive neonatal TSH screening tests in Sergipe, Brazil
ABSTRACT Objectives To assess the evolution to permanent or transient conditions in children with positive neonatal TSH tests in Sergipe, Brazil, from 2004 to 2010. Subjects and methods Out of 193,794 screened newborns, 713 presented a neonatal TSH level higher than the local cutoff (5.2 µU/mL). From the confirmatory serum TSH values, the children were
Arch. Endocrinol. Metab.. Publicado em: 25/08/2016
-
12. Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism
ABSTRACT Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examin
Arch. Endocrinol. Metab.. Publicado em: 16/02/2016