46,XX男性性别逆转综合征(附四例报告)

46,XX male sex reversal syndrome and its treatment recommendation (report of 4 cases)

目的 总结 4 6 ,XX男性性别逆转综合征患儿的临床、内分泌和遗传学特点。 方法 回顾分析 4例 4 6 ,XX男性性别逆转综合征患儿的临床资料。 结果 4例患儿社会性别均为男性 ,2例隐睾 ,3例尿道下裂 ,1例重度阴茎下曲伴短尿道畸形 ;B超及盆腔手术探查未见卵巢、子宫 ;血清性激素水平检查提示为高促性腺激素型性腺功能不全 ;染色体核型为 4 6 ,XX。 结论 4 6 ,XX男性性别逆转综合征表型接近正常男性 ,但有睾丸发育不良 ,多数不育 ,治疗重点在于矫正泌尿生殖系统畸形和青春期雄激素替代治疗。

Objective To analyze the clinical,endocrinal and genetic features of 46,XX male syndrome. Methods Retrospectively collect and analyze the clinical data of 4 cases of 46,XX male sex reversal syndrome. Results Four patients were all sociopsychologically males.Among them,2 cases had cryptorchidism,3 hypospadia and 1 severe chordee with short urethra.Neither ovary nor uterus was detected through B ultrasonography or surgical exploration.Assessment of serum sex hormone suggested hypergonadotropic hypogonadism.Genetic detection indicated 46,XX karyotype as normal female's type. Conclusions 46,XX male has nearly normal male phenotype otherwise with testes dysgenesis and most are infertile.The target of treatment is to correct the urinogenital malformation and to compensate hormone defect with androgen.