Disorders of sex development

详细信息    查看全文

• 作者：Mark Woodward ; Rebecca Roberts
• 关键词：CAH ; congenital adrenal hyperplasia ; disorders of sex development ; DSD ; hypospadias ; intersex
• 刊名：Surgery (Oxford)
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：34
• 期：12
• 页码：633-638
• 全文大小：1080 K
• 卷排序：34

文摘

Disorders of sex development (DSD) occur in 1–2/10,000 live births, with a specific molecular diagnosis only possible in 20% of cases. Presentation is usually at birth, and gender assignment must be avoided before review by an expert multidisciplinary team. Initial investigations allow a working diagnosis to be made within 48 hours. In 46,XY DSD, surgery may be necessary to correct hypospadias, reposition or remove undescended testes, and remove symptomatic Müllerian remnants. In 46,XX DSD, feminizing surgery is performed less frequently than in the past, but genitoplasty may still be indicated. Psychosocial support is required to promote positive adaptation as gender dissatisfaction can occur in certain conditions. Long-term outcome data are sparse.