男性假两性畸形的诊断与治疗(附21例报告)

目的 总结和提高男性假两性畸形的诊治水平。方法 总结21例男性假两性畸形者的临床资料。其中，社会性别女性19例，男性2例。年龄6～31岁，平均13岁。临床表现为外生殖器外观异常、双侧腹股沟或大阴唇肿块。性染色体核型均为46，XY。术前经血生化、B超、CT等检查确诊20例，误诊1例。结果 21均行手术治疗，均维持社会性别。15例随诊3～8年，14例维持女性性别者术后口服雌激素替代治疗，第二性征明显改善，11例青春前期身体发育正常，术后外生殖器外观满意、感觉良好；1例维持男性性别患者青春期乳房发育明显。结论 尽早诊治对治疗效果及患者生活质量有重要意义，维持女性性别的手术可以作为治疗男性假两性畸形的首选方法。

Diagnosis and treatment of male pseudohermaphroditism (report of 21 cases)

Objective To report and summarize the improvement of diagnosis and treatment of male pseudohermaphroditism. Methods Among the 21 cases (mean age of 13 years,range from 6 to 31 years),19 were socially female sex and 2 were male sex.Visual clinical examination indicated abnormal external genitalia,lumps on both sides of inguina or labia majora pudendi.Genetic examination showed that the sex chromosome karyotypes of all cases were 46,XY.Before operation diagnoses were established in 20 cases by blood biochemistry,B-ultrasound and CT examination with misdiagnosis in only 1 case. Results All the 21 cases received operation.Female features were retained in 19 cases and male features in 2.Of them 15 cases were followed up for 3 to 8 years.Of the 15 cases 14 were treated by hormone replacement (oral stilbestrol)with obvious improvement of secondary sexual character.Of the 14 cases 11 had normal prepuberal physical development.The appearances of the external genitalia were satisfactory.One patient who maintained male sex had obvious growth of breasts during puberty. Conclusions Early diagnosis and treatment are very important to the therapeutic effects and the life quality of the patients.It is suggested that operation of maintaining female sex can be preferred as treatment of choice for male pseudohermaphroditism.