临床发现说明了性分化(DSD)性染色体障碍中45,X/46,XY镶嵌性的表型表现的广泛范围。研究的目的是评估45,X/46,XY患者的特征,并询问他们在DSD分类中的位置。描述了11例45,X/46,XY镶嵌症患者的临床发现,包括表现,性腺形态学,生殖器解剖学,并对285例DSD患者的激素水平进行了评估。67例患者被诊断为性染色体DSD(50Turner,三个Klinefelter,十45,X/46,XY性腺再生,一个45X/46,XY睾丸DSD,一个47,XYY睾丸DSD,和两个46,XX/46,XY睾丸DSD)。45,X/46,XY镶嵌的患者类型和百分比如下:4例混合性腺发育不全,4例部分性腺发育不全,2例完全性腺发育不全,睾丸DSD1例。另一方面,另一名患有45,X/46,XX镶嵌症的患者被诊断为MGD,右侧有条纹性腺,另一侧有睾丸.
结论:我们建议性染色体DSD分类可以包括45,X/46,XYPGD和45,X/46,XYCGD。混合性腺发育不全也可能是46,XYDSD细分的睾丸分化障碍之一。
Clinical findings illustrate the wide spectrum of the phenotypic manifestations of 45,X/46,XY mosaicism in the sex chromosome disorders of sex differentiation (DSD). The objective of study is to evaluate the characteristics of 45,X/46,XY patients and questioning of their place within the DSD categorization. The clinical findings of 11 patients with 45,X/46,XY mosaicism are described including the presentation, gonadal morphology, genital anatomy, and the hormone levels among 285 patients with DSD evaluated. Sixty-seven patients were diagnosed with sex chromosome DSD (50 Turner, three Klinefelter, ten 45,X/46,XY gonadal disgenesis, one 45X/46,XY ovotesticular DSD, one 47,XYY ovotesticular DSD, and two 46,XX/46,XY ovotesticular DSD). The type and the percentage of patients with 45,X/46,XY mosaicism were as follows: Four cases of mix gonadal dysgenesis, four cases of partial gonadal dysgenesis, two cases of complete gonadal dysgenesis, one case of ovotesticular DSD. On the other hand, another patient that has 45,X/46,XX mosaicism was diagnosed with MGD with the presence of the streak gonad on the right side and the testis on the other side.
CONCLUSIONS: We suggest that sex chromosome DSD categorization can include 45,X/46,XY PGD and 45,X/46,XY CGD. Mixed gonadal dysgenesis may be also placed among the disorders of testicular differentiation of 46,XY DSD subdivision.