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[真两性畸形。延迟诊断。手术治疗及15年随访]

[True hermaphroditism. Late diagnosis. Surgical treatment and a 15-year follow-up].

作者信息

Amrani M, Renoirte P

机构信息

Service de Chirurgie, Hôpital de Jolimiont, La Louvière, Belgique.

出版信息

Chir Pediatr. 1990;31(4-5):279-83.

PMID:2083468
Abstract

True hermaphroditism is an usual cause of ambiguous genitalia. In some social areas, the diagnosis is often late and raised as pubertair abnormally. We report a case of a 12 years old Sicilian child, seen in 1975, raised as a boy and whose the main complain was a gynaecomastia. Clinical and paraclinical investigations revealed a small testicle on the one side and on ovary with an uterus and an obturated tube on the opposite side. A small recurvated penis, partially adherent to the scrotum is noticed. A structure embryologycally close to a vagina is also found behind the bladder. Cytogenetic structures showed a mixte karyotype: mosaicim 46 XX/46 XY with a ratio of a 80/20. Hormonal assessment showed a normal level of estrogen while testosterone is below the inferior threshold. A surgical treatment is carried out in three steps: removal of the internal female organs and testicular prosthesis replacement in the one side after castration, reconstruction of the recurvated penis and replacement of the other testicular prosthesis, and finally construction of the anterior urethra. Since the very first step of the surgical management and adjuvant hormonotherapy (testosterone) is administrated in order to decrease the gynaecomastia but also to allow the normal growth of the male organs. We discuss the benefice of a such therapeutic option in the true hermaphroditism lately diagnosed recording to organic and psychological data. We also point out the difficulty in therapeutic choice, mainly when the patient has raised as a boy. The follow-up in this case in 15 years.

摘要

真两性畸形是两性生殖器模糊的常见原因。在一些社会领域,诊断往往较晚,多在青春期异常时才被提出。我们报告一例1975年接诊的12岁西西里岛儿童病例,该患儿自幼被当作男孩抚养,主要诉求为乳腺增生。临床及辅助检查发现一侧有一个小睾丸,另一侧有一个卵巢、子宫及一条闭锁的输卵管。还发现一个小的弯曲阴茎,部分附着于阴囊。膀胱后方还发现一个胚胎学上与阴道相近的结构。细胞遗传学检查显示为混合核型:46 XX/46 XY嵌合体,比例为80/20。激素评估显示雌激素水平正常,而睾酮低于下限阈值。手术分三步进行:切除体内女性器官,阉割后一侧植入睾丸假体,重建弯曲阴茎并植入另一侧睾丸假体,最后构建前尿道。自手术治疗第一步起就给予辅助激素治疗(睾酮),以减轻乳腺增生,同时促进男性器官正常生长。我们根据器官和心理数据,讨论了这种治疗方案对近期诊断的真两性畸形病例的益处。我们还指出了治疗选择的困难,尤其是当患者自幼被当作男孩抚养时。该病例随访了15年。

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