Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome

Eur J Pediatr. 2014 Dec;173(12):1565-8. doi: 10.1007/s00431-013-2110-8. Epub 2013 Aug 11.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Codon, Nonsense
  • Diabetes Mellitus, Type 1 / complications
  • Diabetes Mellitus, Type 1 / diagnosis*
  • Diabetes Mellitus, Type 1 / genetics
  • Epiphyses / abnormalities*
  • Female
  • Genetic Markers
  • Humans
  • Hypothyroidism / diagnosis
  • Hypothyroidism / etiology*
  • Hypothyroidism / genetics
  • Osteochondrodysplasias / complications
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / genetics
  • eIF-2 Kinase / genetics

Substances

  • Codon, Nonsense
  • Genetic Markers
  • EIF2AK3 protein, human
  • eIF-2 Kinase

Supplementary concepts

  • Wolcott-Rallison syndrome