儿童真两性畸形诊断与治疗:附9例报告

目的 探讨儿童真两性畸形的诊断、合理的性别选择及恰当的治疗方式。方法 回顾性分析1994年至2002年9例儿童真两性畸性的临床资料。结果 社会性别：男6例，女3例；染色体组型：46XX4例，46XY1例，45XO1例，45XO／46XY嵌合型3例。性腺畸形为：双侧型2例，单侧型3例，片侧型4例。按男性抚育者，行卵巢组织及子宫附件切除，睾丸固定，同期或二期尿道下裂修复；按女性抚育者，切除睾丸组织或卵睾，同期行阴蒂会阴成形术。近期2例用腹腔镜行盆腔探查和性腺切除。5例获得6个月～3年的随访。结论 早期诊断、根据外生殖器及性腺优势作出合理的性别选择至关重要，儿童期应完成对与确定性别相抵触性腺的切除和外生殖器矫形，腹腔镜在诊断与治疗上有很好的价值。

Diagnosis and management of true hermaphroditism in children:a clinical study of 9 cases

Objective True hermaphroditism(TH), a kind of rare ambiguous sexual development, refers to the presence of both ovarian and testicular tissue in the same individual. It brings a difficult challenge to the psychological development and social life of the patients, and the emotional trauma to the family as well because of the abnormal genital development and the confused social and physiological gender assignment. We present the clinical diagnosis, proper gender assignment and a protocol for the management of 9 patients with true hermaphroditism. Methods The clinical data of 9 cases with TH including 6 male and 3 female, aged from 1 year 2 month to 8 years old (averaging 4 years) were retrospectively analyzed, and were collected from various regions in Sichuan Province from 1994 to 2002. Results The most common karyotype was 46, XX(4 patients),One patient's karyotype was 46, XY,another was 45,XO,and three patients were 45, XO/46, XY mosaicism.The exploration of the gonads revealed that bilateral ovotestis in two patients, ovotestis plus ovary in three patients, ovary on one side and testis on the other side in four patients. Oxchiopexy and the repair of hypospadias were performed in boys. Reduction clitoroplasty were performed in girls. Exploration and excision of gonads were carried out by laparoscope in two patients recently. Five patients were followed up for 6 months to 3 years. Conclusions It is important that a thorough examination be made in patients with ambiguous genitalia, clitoromegaly and severe hypospadias. A definitive diagnosis must be determined by the exploration of the gonads and the gonadal histology. The appropriate choice of gender should be made according to the characteristics of the external genitals and the prominent gonads. It is very rewarding to excise the gonadal and ducts tissues which are inappropriate for the sex of rearing and to performed corresponding genitalplasty in children, including oxchiopexy, clitorovaginoplasty and the repair of hypospadias. Laparoscope is of particular significance in the early diagnosis and the appropriate treatment.