性发育障碍的流行病学。

IF 6.1 1区医学 Q1 ENDOCRINOLOGY & METABOLISM

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-07-01 DOI:10.1016/j.beem.2025.102002

Agnethe Berglund , Simon Chang , Marie Lind-Holst , Kirstine Stochholm , Claus Højbjerg Gravholt

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引用次数: 0

摘要

近年来，性发育障碍（DSD）的流行病学已经有了更清晰的描述。本文结合性染色体DSD （Turner, Klinefelter, 47，XXX和47，XXY综合征，以及45，X/46，XY嵌合）领域的最新知识，以及46，XX DSD和46，XY DSD，重点是先天性肾上腺增生症（CAH）女性、46，XX DSD男性、mayer - rokitansky - k ster- hauser综合征女性和46，XY DSD女性。尽管不符合直接在芝加哥共识分类DSD，我们也包括一些流行病学研究解决模糊生殖器。我们表明，流行病学研究提高了我们对DSD的理解，并导致了对患病率的合理估计，详细的发病率和死亡率模式，并且在某些情况下还揭示了对社会经济成就的影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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The epidemiology of disorders of sex development

During recent years the epidemiology of disorders of sex development (DSD) has been more clearly delineated. Here, we provide a detailed and up-to-date synopsis of the epidemiology of DSD, incorporating the latest body of knowledge in the field for sex chromosome DSD (Turner, Klinefelter, 47,XXX, and 47,XXY syndrome, and 45,X/46,XY mosaicism) as well as for 46,XX DSD and 46,XY DSD focusing on females with congenital adrenal hyperplasia (CAH), males with 46,XX DSD, females with Mayer-Rokitansky-Küster-Hauser syndrome and females with 46,XY DSD. Despite not fitting directly within the Chicago Consensus classification for DSD, we also include the few epidemiological studies addressing ambiguous genitalia. We show that epidemiological studies have improved our understanding of DSD and led to sound estimates of prevalence, have detailed morbidity and mortality patterns and have for some conditions also shed light on the impact on socioeconomic achievements.

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来源期刊

Best practice & research. Clinical endocrinology & metabolism 医学-内分泌学与代谢

CiteScore

11.90

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Best Practice & Research Clinical Endocrinology & Metabolism is a serial publication that integrates the latest original research findings into evidence-based review articles. These articles aim to address key clinical issues related to diagnosis, treatment, and patient management. Each issue adopts a problem-oriented approach, focusing on key questions and clearly outlining what is known while identifying areas for future research. Practical management strategies are described to facilitate application to individual patients. The series targets physicians in practice or training.