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一例具有内分泌特征的科斯特洛综合征病例。

A case of Costello syndrome with endocrine features.

作者信息

Yetkin I, Ayvaz G, Arslan M, Yilmaz M, Cakir N

机构信息

Department of Internal Medicine, Gazi University Faculty of Medicine, Ankara, Turkey.

出版信息

Ann Genet. 1998;41(3):157-60.

PMID:9833070
Abstract

The case of a 21-year-old woman with findings consistent with Costello syndrome (CS) is reported. Most previously reported cases of CS were in young children. In addition to the classic features, the patient had endocrine disturbances including secondary amenorrhea, goiter, and adrenal insufficiency. This last abnormality may be the cause of the hypoglycemic episodes seen in CS. Osteoporosis and anemia were additional features. This case provides new information on the endocrine features and prognosis of CS.

摘要

报告了一例21岁女性,其检查结果符合科斯特洛综合征(CS)。此前报道的大多数CS病例为幼儿。除了典型特征外,该患者还存在内分泌紊乱,包括继发性闭经、甲状腺肿和肾上腺功能不全。最后这一异常情况可能是CS中出现低血糖发作的原因。骨质疏松和贫血是其他特征。该病例为CS的内分泌特征和预后提供了新信息。

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