Despite being collectively among the most frequent congenital developmental conditions worldwide, differences of sex development (DSD) lack recognition and research funding. As a result, what constitutes optimal management remains uncertain. Identification of the individual conditions under the DSD umbrella is challenging and molecular genetic diagnosis is frequently not achieved, which has psychosocial and health-related repercussions for patients and their families. New genomic approaches have the potential to resolve this impasse through better detection of protein-coding variants and ascertainment of under-recognized aetiology, such as mosaic, structural, non-coding or epigenetic variants. Ultimately, it is hoped that better outcomes data, improved understanding of the molecular causes and greater public awareness will bring an end to the stigma often associated with DSD.

尽管性别发育差异（DSD）总体上是全球最常见的先天性发育状况之一，但缺乏认识和研究经费。因此，什么是最佳管理仍然不确定。在 DSD 保护下识别个体病症具有挑战性，并且经常无法实现分子遗传学诊断，这对患者及其家人产生心理社会和健康相关的影响。新的基因组方法有可能通过更好地检测蛋白质编码变异和确定未被充分认识的病因（例如镶嵌、结构、非编码或表观遗传变异）来解决这一僵局。最终，希望更好的结果数据、对分子原因更好的理解以及更高的公众意识将结束通常与 DSD 相关的耻辱。