Iraqi N, Gaouzi A, Bouhafs M A
Service d'endocrinologie diabétologie, maladies métaboliques et nutrition, CHU Rabat, Rabat, Morocco.
Ann Endocrinol (Paris). 2010 Mar;71(2):117-20. doi: 10.1016/j.ando.2009.11.008. Epub 2010 Jan 25.
XY patients with gonadal dysgenesis present with a wide array of clinical pictures that is characterised by a variable incomplete virilisation of the external genital organs (female phenotype, posterior hypospadias, cryptorchidism) and the persistence of the internal müllerian duct structures. The birth of a child with this type of abnormality is a social phenomenon, which will probably have a physical and psychical impact. The choice of the sex depends on the organic anatomy, diagnosis age, risk of gonadal tumors and the development possibilities (mainly at puberty) of the child. The registration of the civil status can be made only after determining the sex through the aforementioned anatomical and functional study. Once this process is finished, the treatment must be considered. We report our experience, particularly complicated in the choice of the sex of child, with an XY karyotype and partial gonadal dysgenesis. Raised as a girl until her seventh day when her parents noticed the existence of a genital bud and decided to register their child as a boy in the civil status. He was referred to our hospital, at the age of 16 months, in order to explore a bilateral cryptorchidism and posterior hypospadias. Our patient was declared to be a boy based on an unanimous opinion of a multidisciplinary team.
患有性腺发育不全的XY患者呈现出一系列临床症状，其特征为外生殖器的男性化不完全且程度各异（女性表型、阴茎阴囊型尿道下裂、隐睾症），以及副中肾管结构持续存在。出生时患有此类异常的孩子是一种社会现象，这可能会对其身体和心理产生影响。性别的选择取决于器官解剖结构、诊断年龄、性腺肿瘤风险以及孩子的发育可能性（主要是在青春期）。只有通过上述解剖学和功能研究确定性别后，才能进行户籍登记。一旦这个过程完成，就必须考虑治疗问题。我们报告了我们在处理一名核型为XY且患有部分性腺发育不全、在性别选择上特别复杂的患儿时的经验。患儿一直被当作女孩抚养，直到第七天父母发现有生殖结节，于是决定在户籍登记中将孩子登记为男孩。16个月大时，患儿因双侧隐睾症和阴茎阴囊型尿道下裂被转诊至我院。基于多学科团队的一致意见，我们的患者被判定为男性。
