Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome

被引：5
|
作者：
Ersoy, Betul [1 ]
Ozhan, Bayram [1 ]
Kiremitci, Seniha [1 ]
Rubio-Cabezas, Oscar [2 ]
Ellard, Sian [3 ]
机构：
[1] Celal Bayar Univ, Sch Med, Div Pediat Endocrinol & Metab, TR-45000 Manisa, Turkey
[2] Hosp Infantil Univ Nino Jesus, Dept Endocrinol, Madrid, Spain
[3] Royal Devon & Exeter NHS Fdn Trust, Dept Mol Genet, Exeter EX2 5AD, Devon, England
来源：
EUROPEAN JOURNAL OF PEDIATRICS | 2014年 / 173卷 / 12期
基金：
英国惠康基金;
关键词：
Wolcott-Rallison Syndrome; Infantile-onset diabetes mellitus; Primary hypothyroidism; MUTATION; EIF2AK3;
D O I：
10.1007/s00431-013-2110-8
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
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.
引用
收藏
页码：1565 / 1568
页数：4
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