Ersoy Betül, Özhan Bayram, Kiremitçi Seniha, Rubio-Cabezas Oscar, Ellard Sian
Division of Pediatric Endocrinology and Metabolism, School of Medicine, Celal Bayar University, Manisa, 45000, Turkey.
Eur J Pediatr. 2014 Dec;173(12):1565-8. doi: 10.1007/s00431-013-2110-8. Epub 2013 Aug 11.
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.
据报道，沃科特-拉利森综合征与早发性糖尿病、骨骺发育异常、肝肾功能障碍、智力迟钝、严重生长发育迟缓、中性粒细胞减少、外分泌胰腺功能障碍及中枢性甲状腺功能减退有关。我们报告了1例因新突变（W521X）导致沃科特-拉利森综合征患者出现原发性甲状腺功能减退，此前未见相关描述，该患者经甲状腺激素治疗后生长情况有所改善。
