Reiner William G, Gearhart John P
Department of Psychiatry, Johns Hopkins Medical Institutions, Baltimore, USA.
N Engl J Med. 2004 Jan 22;350(4):333-41. doi: 10.1056/NEJMoa022236.
Cloacal exstrophy is a rare, complex defect of the entire pelvis and its contents that occurs during embryogenesis and is associated with severe phallic inadequacy or phallic absence in genetic males. For about 25 years, neonatal assignment to female sex has been advocated for affected males to overcome the issue of phallic inadequacy, but data on outcome remain sparse.
We assessed all 16 genetic males in our cloacal-exstrophy clinic at the ages of 5 to 16 years. Fourteen underwent neonatal assignment to female sex socially, legally, and surgically; the parents of the remaining two refused to do so. Detailed questionnaires extensively evaluated the development of sexual role and identity, as defined by the subjects' persistent declarations of their sex.
Eight of the 14 subjects assigned to female sex declared themselves male during the course of this study, whereas the 2 raised as males remained male. Subjects could be grouped according to their stated sexual identity. Five subjects were living as females; three were living with unclear sexual identity, although two of the three had declared themselves male; and eight were living as males, six of whom had reassigned themselves to male sex. All 16 subjects had moderate-to-marked interests and attitudes that were considered typical of males. Follow-up ranged from 34 to 98 months.
Routine neonatal assignment of genetic males to female sex because of severe phallic inadequacy can result in unpredictable sexual identification. Clinical interventions in such children should be reexamined in the light of these findings.
泄殖腔外翻是一种罕见的、涉及整个骨盆及其内容物的复杂缺陷，发生于胚胎发育过程中，在基因男性中与严重的阴茎发育不全或阴茎缺如相关。在大约25年的时间里，一直有人主张对受影响的男性新生儿进行女性性别指定，以克服阴茎发育不全的问题，但关于结果的数据仍然稀少。
我们评估了在我们泄殖腔外翻诊所就诊的所有16名年龄在5至16岁之间的基因男性。其中14人在社会、法律和手术层面上在新生儿期被指定为女性；其余两人的父母拒绝这样做。详细的问卷广泛评估了性角色和身份的发展情况，性角色和身份由受试者对其性别的持续声明来定义。
在本研究过程中，14名被指定为女性的受试者中有8人宣称自己为男性，而另外2名从小被当作男性抚养的受试者仍认定自己为男性。受试者可根据其声明的性身份进行分组。5名受试者以女性身份生活；3名受试者的性身份不明确，尽管其中2人曾宣称自己为男性；8名受试者以男性身份生活，其中6人已重新认定自己为男性。所有16名受试者都有中度至明显的兴趣和态度，这些兴趣和态度被认为是男性典型的。随访时间为34至98个月。
由于严重的阴茎发育不全而对基因男性进行常规的新生儿女性性别指定可能会导致不可预测的性别认同。鉴于这些发现，应对此类儿童的临床干预措施进行重新审视。
