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.
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Authors | Betül Ersoy, Bayram Özhan, Seniha Kiremitçi, Oscar Rubio-Cabezas, Sian Ellard |
Journal | European journal of pediatrics
(Eur J Pediatr)
Vol. 173
Issue 12
Pg. 1565-8
(Dec 2014)
ISSN: 1432-1076 [Electronic] Germany |
PMID | 23933668
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Codon, Nonsense
- Genetic Markers
- EIF2AK3 protein, human
- eIF-2 Kinase
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Topics |
- Child, Preschool
- Codon, Nonsense
- Diabetes Mellitus, Type 1
(complications, diagnosis, genetics)
- Epiphyses
(abnormalities)
- Female
- Genetic Markers
- Humans
- Hypothyroidism
(diagnosis, etiology, genetics)
- Osteochondrodysplasias
(complications, diagnosis, genetics)
- eIF-2 Kinase
(genetics)
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