苗勒管抑制物质在儿童外生殖器畸形诊断中的价值

The role of müllerian inhibiting substance in the diagnosis of ambiguous genitalia

目的探讨苗勒管抑制物质(müllerian inh ib iting substance,M IS)在外生殖器畸形儿童的诊断价值。方法采用酶联免疫法检测41例外生殖器模糊患儿的血清M IS水平,作为对照同时检测无外生殖器疾患52例男性儿童和11例女性儿童血清M IS水平。结果41例中,31例社会性别为男性,10例社会性别为女性。社会性别为男性者中,检测显示28例血清M IS浓度正常者为尿道下裂,2例异常者分别为真两性畸形及苗勒管综合征,另1例异常者可能为雄激素不敏感综合征。社会性别为女性者中,8例M IS水平极低或检测不到,为女性假两性畸形(指染色体及性腺均为女性,外生殖器呈现不同程度的男性化);2例水平较高,为真两性畸形。结论M IS可以为患儿是否存在有功能的睾丸组织提供可靠的依据。对外阴性别模糊儿童,M IS若检测不到或水平极低,提示可能为女性假两性畸形;若明显低于同年龄段男性儿童,提示可能为真两性畸形;若为正常水平,提示可能为近端型尿道下裂;若M IS水平明显高于同年龄段男性儿童可初步筛选为雄激素不敏感综合征,并进行分子生物学的检查确诊。

Objective To explore the serum levels of miillerian inhibiting substance（MIS） in the diagnosis of ambiguous genitalia in children. Methods The clinical presentations, B ultrasound examination, and karyotype analysis were evaluated in 41 patients with ambiguous genitalia. MIS in the serum of these patients and 63 controls （52 male and 11 female） was assayed. The relationship between the types of ambiguous genitalia and the levels of MIS was investigated. Results Thirty-one patients were social male, whilst 10 were social femal. Among 31 social males, true hermaphrodite and persistent mtillerian duct syndrome （PMDS） were noted in each patient. The level of MIS was undetectahle in I patient with PMDS, and decreased in 1 child with true hermaphrodit. Among 10 social females, MIS was traced or undetectable in 8 patients with idiopathic virilization, and the levels of MIS in 2 patients with true hermaphrodite were higher than those in normal females but lower than those in normal males. Conclusions The assay of MIS is helpful in the differential diagnosis of ambiguous genitalia. If the levels of MIS in serum are normal, hypospadias might be considered firstly; if MIS is traced or undetectable, idiopathic virilization need to be suspected; if the levels of MIS are lower than those of flormal boys but much higher than those of normal girls, true hermaphrodite might be diagnosed.