Ahmed Syed Faisal, Armstrong Kate, Cheng Earl Y, Cools Martine, Harley Vincent, Mendonca Berenice B, Nordenström Anna, Rey Rodolfo, Sandberg David E, Utari Agustini, Flück Christa E
Child Health, School of Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Caring & Living as Neighbours (CLAN), Denistone, New South Wales, Australia.
Nat Rev Dis Primers. 2025 Jul 31;11(1):54. doi: 10.1038/s41572-025-00637-y.
Differences of sex development (DSD) represent a group of congenital conditions that affect human sex development and maturation owing to discrepancies of chromosomal, gonadal and phenotypic sex. The Chicago consensus classifies DSD as sex chromosome DSD, 46,XY DSD and 46,XX DSD, with subclassifications according to gonadal determination into testes and ovaries and hormone-dependent differentiation of Müllerian and Wolffian embryonic structures into female-typical or male-typical internal and external sex organs. DSD may occur as an isolated condition or as part of a complex syndrome. Diagnosis is based on clinical characteristics, imaging studies, hormonal measurements and genetic investigations. Management includes lifelong psychosocial support, hormonal treatments and surgical interventions that require personalization for each case as DSD encompasses a wide variety of aetiologies and presentations. This personalization must also consider individual values and preferences to ensure that clinical care is tailored to meet the unique needs and circumstances of each person, ideally provided by a care team with diverse specialities. This care involves psycho-educational counselling on the condition and its consequences, considering family and cultural norms. Additional efforts are needed to bridge gaps in knowledge related to diagnosis, management and long-term outcomes. Enhancing our understanding of the distinctions between sex and gender in societies is essential as greater awareness will inform and enrich public debates.
性发育差异（DSD）是一组先天性疾病，由于染色体、性腺和表型性别的差异，影响人类性发育和成熟。芝加哥共识将DSD分为性染色体DSD、46,XY DSD和46,XX DSD，并根据性腺发育分为睾丸型和卵巢型，以及苗勒氏管和沃尔夫氏管胚胎结构在激素作用下分化为女性典型或男性典型的内、外生殖器官进行亚分类。DSD可能作为一种孤立的疾病出现，也可能是复杂综合征的一部分。诊断基于临床特征、影像学检查、激素测量和基因检测。管理包括终身的心理社会支持、激素治疗和手术干预，由于DSD病因和表现形式多样，每种情况都需要个性化处理。这种个性化还必须考虑个人价值观和偏好，以确保临床护理能够满足每个人的独特需求和情况，理想情况下由具有不同专业背景的护理团队提供。这种护理包括就病情及其后果提供心理教育咨询，同时考虑家庭和文化规范。还需要做出额外努力来弥合在诊断、管理和长期结果方面的知识差距。增强我们对社会中性与性别差异的理解至关重要，因为更高的认识将为公众辩论提供信息并丰富其内容。
