Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome.
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.
Division of Pediatric Endocrinology and Metabolism, School of Medicine, Celal Bayar University, Manisa, 45000, Turkey.
Betül
B
Ersoy
Bayram
B
Özhan
Seniha
S
Kiremitçi
Oscar
O
Rubio-Cabezas
Sian
S
Ellard
D002675:Child, Preschool; D018389:Codon, Nonsense; D003922:Diabetes Mellitus, Type 1 / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004838:Epiphyses / Q000002:abnormalities*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D010009:Osteochondrodysplasias / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D019892:eIF-2 Kinase / Q000235:genetics
D018389:Codon, Nonsense; D005819:Genetic Markers; C460640:EIF2AK3 protein, human; D019892:eIF-2 Kinase