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Concurrent THRB and DUOX2 variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone.
Hatano, Megumi; Tanase-Nakao, Kanako; Uehara, Erika; Iwano, Reiko; Muroya, Koji; Narumi, Satoshi.
Afiliación
  • Hatano M; Department of Pediatrics, St. Luke's International Hospital, Tokyo, Japan.
  • Tanase-Nakao K; Department of Molecular Oncology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
  • Uehara E; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Iwano R; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Muroya K; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Narumi S; Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan.
Clin Pediatr Endocrinol ; 33(2): 94-100, 2024.
Article en En | MEDLINE | ID: mdl-38572382
ABSTRACT
Most patients with resistance to thyroid hormone (RTH) test negative in newborn screening (NBS) for congenital hypothyroidism (CH). Here, we present a case of RTH diagnosed through NBS. The patient presented to us after her NBS for CH revealed high TSH (23.4 µIU/mL) and free T4 (FT4) (5.40 ng/dL) levels. Apart from tachycardia, she exhibited no other manifestations related to excess or deficiency of thyroid hormones. A confirmatory test replicated the findings, showing elevated serum TSH levels (35.7 µIU/mL) along with high FT4 levels (5.84 ng/dL). Ultrasonography showed marked thyroid gland enlargement (> +4 SD). Targeted next-generation sequencing of genes associated with genetic thyroid disorders revealed a previously reported THRB variant, p.Gly345Cys. Unexpectedly, two biallelic DUOX2 variants (p.His678Arg and p.Arg1334Trp) were also detected. At her last visit, no significant issues were observed with neurological development, growth, bone maturation, or gastrointestinal symptoms related to thyroid function at the age of 1 year, without treatment for RTH and CH. During follow-up, the TSH and FT4 levels gradually decreased. In conclusion, we report a patient with simultaneous RTH and DUOX2 defects, demonstrating the value of conducting a comprehensive analysis of multiple genes associated with thyroid diseases to better comprehend the pathogenesis in patients with atypical thyroid-related phenotypes.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Pediatr Endocrinol Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Japón
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Pediatr Endocrinol Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Japón