Thyroid Hormone Resistance in a Preterm Infant with a Novel THRB Mutation
Neonatal Medicine
; : 111-116, 2019.
Artigo
em Inglês
| WPRIM (Pacífico Ocidental)
| ID: wpr-760575
Biblioteca responsável:
WPRO
ABSTRACT
Resistance to thyroid hormone (RTH) is a condition caused by a mutation in the thyroid hormone receptor gene. It is rarely reported in individuals with no family history of RTH or in premature infants, and its clinical presentation varies. In our case, a premature infant with no family history of thyroid diseases had a thyroid stimulating hormone level of 85.0 µIU/mL and free thyroxine level of 1.64 ng/dL on a thyroid function test. The patient also presented with clinical signs of hypothyroidism, including difficulties in feeding and weight gain. The patient was treated with levothyroxine; however, only free thyroxine and triiodothyronine levels increased without a decrease in thyroid-stimulating hormone levels. Taken together with thyroid gland hypertrophy observed on a previous ultrasound examination, RTH was suspected and the diagnosis was eventually made based on a genetic test. A de novo mutation in the thyroid hormone receptor β gene in the infant was found that has not been previously reported. Other symptoms included tachycardia and pulmonary hypertension, but gradual improvement in the symptoms was observed after liothyronine administration. This report describes a case involving a premature infant with RTH and a de novo mutation, with no family history of thyroid disease.
Texto completo:
Disponível
Contexto em Saúde:
ODS3 - Saúde e Bem-Estar
/
ODS3 - Meta 3.4 Reduzir as mortes prematuras devido doenças não transmissíveis
/
ODS3 - Meta 3.2 Reduzir as mortes de recém nascidos e crianças com menos de 5 anos
Problema de saúde:
Meta 3.2: Reduzir as mortes de recém nascidos e crianças com menos de 5 anos
/
Doença Cardiovascular
/
Doenças do Sistema Endócrino
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Outras Doenças Respiratórias
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Cuidados de Saúde Neonatal
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Doenças Não Transmissíveis
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Taquicardia
/
Doenças da Glândula Tireoide
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Testes de Função Tireóidea
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Glândula Tireoide
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Tiroxina
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Tri-Iodotironina
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Receptores dos Hormônios Tireóideos
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Recém-Nascido Prematuro
/
Tireotropina
/
Aumento de Peso
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
/
Lactente
/
Recém-Nascido
Idioma:
Inglês
Revista:
Neonatal Medicine
Ano de publicação:
2019
Tipo de documento:
Artigo