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- Title
Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome.
- Authors
Ersoy, Betül; Özhan, Bayram; Kiremitçi, Seniha; Rubio-Cabezas, Oscar; Ellard, Sian
- 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.
- Subjects
INFANT diseases; DIABETES; DYSPLASIA; KIDNEY diseases; HYPOTHYROIDISM
- Publication
European Journal of Pediatrics, 2014, Vol 173, Issue 12, p1565
- ISSN
0340-6199
- Publication type
Article
- DOI
10.1007/s00431-013-2110-8