Primary hypothyroidism: an unusual manifestation of Wolcott–Rallison syndrome

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

European Journal of Pediatrics, cilt.173, sa.12, ss.1565-1568, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 173 Sayı: 12
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1007/s00431-013-2110-8
  • Dergi Adı: European Journal of Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1565-1568
  • Anahtar Kelimeler: Wolcott-Rallison Syndrome, Infantile-onset diabetes mellitus, Primary hypothyroidism
  • Manisa Celal Bayar Üniversitesi Adresli: Evet

Özet

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.