Primary hypothyroidism: an unusual manifestation of Wolcott–Rallison syndrome

ERSOY B., Özhan B., Kiremitçi S., Rubio-Cabezas O., Ellard S.

European Journal of Pediatrics, vol.173, no.12, pp.1565-1568, 2014 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 173 Issue: 12
  • Publication Date: 2014
  • Doi Number: 10.1007/s00431-013-2110-8
  • Journal Name: European Journal of Pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1565-1568
  • Keywords: Wolcott-Rallison Syndrome, Infantile-onset diabetes mellitus, Primary hypothyroidism
  • Manisa Celal Bayar University Affiliated: Yes

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.