Contexts of care for people with differences of sex development: Diversity is still missing in the laboratory routine.

IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Medizinische Genetik Pub Date : 2023-08-16 eCollection Date: 2023-09-01 DOI:10.1515/medgen-2023-2037
Alexandra E Kulle, Martina Jürgensen, Ulla Döhnert, Lisa Malich, Louise Marshall, Olaf Hiort
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Abstract

The 2006 Chicago consensus statement of management of disorders/difference of sex development (DSD) has achieved advantages in clinical care and diagnosis for patients and families affect by DSD. This article provides a brief overview of contexts of care for physicians, and points out specific challenges in clinical practice that have arisen from the transformations of the sex/gender system in recent years. We focus on the impact of diagnosis and laboratory measurements. Both laboratory measurements and hormonal therapies still depend on the binary system. One problem is the lack of reference intervals for the different forms of DSD, which means that diversity is often neglected. In the following, we will give a brief insight into this complex topic.

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照顾性别发展差异人群的背景
摘要2006年芝加哥关于疾病/性别发展差异(DSD)管理的共识声明在受DSD影响的患者和家庭的临床护理和诊断方面取得了优势。本文简要概述了医生的护理背景,并指出了近年来性别/性别系统的转变在临床实践中带来的具体挑战。我们专注于诊断和实验室测量的影响。实验室测量和激素治疗仍然依赖于二元系统。一个问题是缺乏不同形式DSD的参考区间,这意味着多样性经常被忽视。在下文中,我们将简要了解这个复杂的主题。
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来源期刊
Medizinische Genetik
Medizinische Genetik Medicine-Genetics (clinical)
CiteScore
1.40
自引率
9.10%
发文量
48
审稿时长
>12 weeks
期刊介绍: medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
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