Primary hypothyroidism: an unusual manifestation of Wolcott–Rallison syndrome

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• 作者：Betül Ersoy (1)
  Bayram ?zhan (1)
  Seniha Kiremit?i (1)
  Oscar Rubio-Cabezas (2)
  Sian Ellard (3)
  
• 关键词：Wolcott–Rallison Syndrome ; Infantile ; onset diabetes mellitus ; Primary hypothyroidism
• 刊名：European Journal of Pediatrics
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：173
• 期：12
• 页码：1565-1568
• 全文大小：2,190 KB
• 参考文献：1. Arrojo E, Drigo R, Fonseca TL, Castillo M, Salathe M, Simovic G, Mohácsik P, Gereben B, Bianco AC (2011) Endoplasmic reticulum stress decreases intracellular thyroid hormone activation via an eIF2a-mediated decrease in type 2 deiodinase synthesis. Mol Endocrinol 25:2065-075. doi:10.1210/me.1061 CrossRef
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• 作者单位：Betül Ersoy (1)
  Bayram ?zhan (1)
  Seniha Kiremit?i (1)
  Oscar Rubio-Cabezas (2)
  Sian Ellard (3)
  
  1. Division of Pediatric Endocrinology and Metabolism, School of Medicine, Celal Bayar University, Manisa, 45000, Turkey
  2. Department of Endocrinology, Hospital Infantil Universitario Ni?o Jesús, Madrid, Spain
  3. Department of Molecular Genetics Royal Devon and Exeter NHS Foundation Trust Church Lane, Exeter, EX2 5AD, UK
  
• ISSN：1432-1076

文摘

Wolcott–Rallison syndrome has been reported to be associated with early-onset diabetes, epiphyseal dysplasia, hepatic and renal dysfunction, mental retardation, severe growth retardation, neutropenia, exocrine pancreatic dysfunction, and central hypothyroidism. We report on primary hypothyroidism, which has not been previously described, of a patient with Wolcott–Rallison syndrome due to novel mutation (W521X), who showed improved growth after thyroid hormone treatment.