《性发育异常的儿科内分泌诊断与治疗共识》解读

Interpretation of Consensus Statement on the Diagnosis and Endocrine Treatment of Children with Disorder of Sex Development

摘要:

性发育异常（disorder of sex development，DSD）是一组染色体核型、性腺表型以及性腺解剖结构不一致的疾病。为进一步加深临床医师对DSD的认识，规范合理地给DSD患者进行诊疗，中华医学会儿科学分会内分泌遗传代谢学组发表了《性发育异常的儿科内分泌诊断与治疗共识》。该共识就DSD分类、临床评估、性别认定、内分泌激素治疗及相关肿瘤风险等方面为临床医生提供了参考。本文对共识的主要内容进行解读并作进一步探讨。

Abstract:

Disorder of sex development（DSD） is a group of chromosomal karyotypes，gonadal phenotypes，and gonadal anatomical discordant disorders. In order to further deepen the understanding of DSD by clinicians，standardize the diagnosis and treatment of patients with DSD，the Subspecialty Group of Endocrinologic，Hereditary and Metabolic Diseases，the Society of Pediatrics，the Chinese Medical Association issued Consensus Statement on the Diagnosis and Endocrine Treatment of Children with Disorder of Sex Development. The consensus provides clinicians with information on DSD classification，clinical evaluation，gender identification，endocrine hormone therapy and associated tumor risk. This paper interprets and further discusses the main contents of the consensus.