Department of Paediatric Urology and Surgery, Hôpital Mère-Enfants, and Claude-Bernard University, 69677 Bron, France.
Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):311-24. doi: 10.1016/j.beem.2009.10.004.
Disorders of sexual development (DSD) include three main groups of patients: (1) The virilised 46,XX DSD essentially represented by congenital adrenal hyperplasia (CAH) ; (2) The undervirilised 46,XY DSD essentially represented by hypospadias; and (3) the chromosomic jigsaws essentially represented by mixed gonadal dysgenesis. It is in this last group that gender assignment remains a difficult decision involving various indicators, which can be split into four categories: (1) the inside sex (i.e., genes, hormones and target tissues); (2) the outside sex (i.e., anatomy of genitalia including size of the genital tubercle, mullerian cavity and potential adult height of the patient); (3) the functional sex (i.e., potential sexuality and fertility); and (4) and the social sex (i.e., the cultural medium in which the child is brought up). The challenge is to outline the future individual identity of the child in the postnatal period using these indicators. Current evolutions of surgical techniques of 'feminisation' and 'masculinisation' are described as well as their outcomes.
性发育障碍(DSD)包括三组主要的患者:(1)以先天性肾上腺增生症(CAH)为代表的 46,XX 男性化 DSD;(2)以尿道下裂为代表的 46,XY 低促性腺激素性 DSD;(3)以混合性性腺发育不良为代表的染色体拼图。正是在最后一组中,性别分配仍然是一个涉及各种指标的困难决定,可以分为四类:(1)内部性别(即基因、激素和靶组织);(2)外部性别(即生殖器的解剖结构,包括生殖器结节、苗勒管和患者的潜在成人身高);(3)功能性别(即潜在的性行为和生育能力);(4)社会性别(即孩子成长的文化媒介)。挑战在于使用这些指标描绘孩子在产后时期的未来个体身份。本文还描述了“女性化”和“男性化”手术技术的当前演变及其结果。