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特纳综合征的诊断与管理建议。

Recommendations for the diagnosis and management of Turner syndrome.

作者信息

Saenger P, Wikland K A, Conway G S, Davenport M, Gravholt C H, Hintz R, Hovatta O, Hultcrantz M, Landin-Wilhelmsen K, Lin A, Lippe B, Pasquino A M, Ranke M B, Rosenfeld R, Silberbach M

机构信息

Division of Pediatric Endocrinology, Montefiore Medical Center/Albert Einstein College of Medicine (P.S.), Bronx, New York 10467, USA.

出版信息

J Clin Endocrinol Metab. 2001 Jul;86(7):3061-9. doi: 10.1210/jcem.86.7.7683.

Abstract

Comprehensive recommendations on the diagnosis of Turner syndrome (TS) and the care of affected individuals were published in 1994. In the light of recent advances in diagnosis and treatment of TS, an international multidisciplinary workshop was convened in March 2000, in Naples, Italy, in conjunction with the Fifth International Symposium on Turner Syndrome to update these recommendations. The present paper details the outcome from this workshop. The genetics and diagnosis of the syndrome are described, and practical treatment guidelines are presented.

摘要

1994年发表了关于特纳综合征(TS)诊断及对患者护理的全面建议。鉴于TS诊断和治疗方面的最新进展,2000年3月在意大利那不勒斯召开了一次国际多学科研讨会,与第五届特纳综合征国际研讨会联合举行,以更新这些建议。本文详细介绍了本次研讨会的成果。描述了该综合征的遗传学和诊断方法,并提出了实际的治疗指南。

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