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性发育疾病(Disorders of sex development,DSD)是性决定和性分化异常的一组异质性遗传病,是由于染色体畸变或单基因突变导致的性发育遗传和内分泌途径的改变。曾经用雌雄间体、假两性畸形、真两性畸形和性反转这些术语用于描述性发育疾病,但有轻蔑含义。2006年欧洲儿科内分泌协会(European Society for Pardiatric Endocrinology,ESPE)和Lawson Wilkins儿科内分泌协会(Lawson Wilkins Pardiatric Endocrine Society,LWPES)联合召开了由内分泌学家、外科学家、遗传学家、心理学家和患者支持小组成员参加的会议,提出了新的术语、分类标准和已知的突变基因。在此,与大家共同探讨。
Disorders of sex development (DSD) is a group of heterogeneous genetic diseases with abnormal sex determination and sexual differentiation, which is caused by chromosomal aberrations or single-gene mutations in sexual development and endocrine pathways. Terms such as intersexuality, pseudohermaphroditism, true hermaphroditism and sexual inversion have been used for descriptive developmental disease but with contempt. In 2006, the European Society of Pediatric Endocrinology (ESPE) and the Lawson Wilkins Pardiatric Endocrine Society (LWPES) jointly sponsored by endocrinologists, surgeons, geneticists, psychologists and patients Meetings in support of team members have come up with new terms, taxonomies and known mutant genes. Here, with everyone to discuss.