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特纳综合征

Turner syndrome.

作者信息

Lippe B

机构信息

Division of Endocrinology and Metabolism, UCLA School of Medicine.

出版信息

Endocrinol Metab Clin North Am. 1991 Mar;20(1):121-52.

PMID:2029883
Abstract

Turner syndrome occurs in 1 of every 2000 to 5000 live female births and is now recognized to encompass a broad range of chromosomal karyotypes and clinical phenotypes. Many of these individuals appear completely normal save for their short stature. This article reviews the major clinical and physiologic abnormalities that can occur and places special emphasis on the problems of short stature and gonadal failure. Evidence is reviewed that indicates that there is a potential for increased height with growth hormone treatment. Also discussed is the spectrum of gonadal function, ranging from the onset of spontaneous puberty and the potential for fertility to complete gonadal failure.

摘要

特纳综合征在每2000至5000例存活女婴中就有1例发生,目前已知其涵盖广泛的染色体核型和临床表型。这些个体中许多除身材矮小外看起来完全正常。本文回顾了可能出现的主要临床和生理异常情况,并特别强调了身材矮小和性腺功能衰竭问题。文中对表明生长激素治疗有增高潜力的证据进行了综述。还讨论了性腺功能的范围,从自然青春期的开始、生育潜力到完全性腺功能衰竭。

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