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欧洲儿科内分泌学会(ESPE)/拉丁美洲儿科内分泌学会(LWPES)性发育障碍诊断和治疗指南的影响

Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development.

作者信息

Hughes Ieuan A, Nihoul-Fékété C, Thomas B, Cohen-Kettenis P T

机构信息

Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, Box 116, Cambridge CB2 OQQ, UK.

出版信息

Best Pract Res Clin Endocrinol Metab. 2007 Sep;21(3):351-65. doi: 10.1016/j.beem.2007.06.003.

Abstract

Ambiguous genitalia of the newborn is the paradigm of a disorder of sex development that demands a multidisciplinary team approach to management. The problem is immediately apparent at birth. Abnormalities of the external genitalia sufficient to warrant genetic and endocrine studies occur in one in 4500 births. In recent decades there have been improvements in diagnosis and early management, particularly with respect to congenital adrenal hyperplasia, the commonest cause of ambiguous genitalia of the newborn. However, dissatisfaction with overall management remains. A Clinical Guidelines and Handbook for Parents generated by a partnership of health professionals and support groups is available on the internet. The professional societies representing paediatric endocrinology responded by organizing a consensus meeting on the management of intersex. This resulted in the publication of a Consensus Statement encompassing many aspects of management, extending from birth to adulthood.

摘要

新生儿生殖器模糊是性发育障碍的典型例子,需要多学科团队进行管理。这个问题在出生时就立即显现出来。足以 warrant 进行遗传和内分泌研究的外生殖器异常在每4500例出生中就有1例发生。近几十年来,诊断和早期管理有了改进,特别是在先天性肾上腺皮质增生方面,这是新生儿生殖器模糊最常见的原因。然而,对整体管理仍存在不满。由健康专业人员和支持团体合作编写的《家长临床指南和手册》可在互联网上获取。代表儿科内分泌学的专业协会通过组织一次关于双性畸形管理的共识会议做出了回应。这导致了一份涵盖管理多个方面的共识声明的发表,从出生到成年。 (注:原文中“warrant”此处翻译为“足以……”,在医学语境中更通顺,但从纯字面理解也许“保证、授权”等意思也能说得通,不过结合语境这里“足以”更合适。)

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