具有46,XX/XY嵌合体的个体可以显示出广泛的特征,从雌雄同体到完全的男性或女性,并且可以在多个组织中显示性染色体嵌合,包括性腺.雌性的性腺组织含有颗粒细胞和生殖细胞。然而,目前尚不清楚46,XX/XY嵌合雌性颗粒细胞和生殖细胞的特定性染色体组成。这里,我们报道了一名30岁继发性不孕症女性,她在外周血中显示出46,XX/46,XY嵌合体.FISH测试显示在女性患者的多个组织中不同程度的XX/XY嵌合体。随后,患者接受了植入前基因检测(PGT)治疗,并检索到26个卵母细胞。从24个活检的成熟卵母细胞中,总共获得23个第一极体(PB)和10个第二PB。这些PBs和两个未成熟的中期I(MI)卵母细胞仅显示X染色体信号,不存在Y,这表明该嵌合雌性中的所有卵母细胞都是XX生殖细胞来源。另一方面,从单个卵泡获得的颗粒细胞表现出不同比例的XX/XY细胞类型,6个卵泡具有100%XX或XY颗粒细胞。共有24个卵母细胞成功受精,和12个发育成胚泡,其中5是XY,5是XX。转移了两个胚泡,其中一个源自从含有100%XY颗粒细胞的卵泡中抽出的卵母细胞。这导致了双胞胎怀孕。随后的产前诊断证实了正常的男性和女性核型。最终,健康的男孩-女孩双胞胎在足月分娩。总之,这46,XX/XY嵌合与XX生殖细胞呈现完整的女性,表明生殖细胞可能对个体的性决定产生重大影响,提供了与性发育和生殖相关的复杂过程的宝贵见解。
Individuals with 46,XX/XY chimerism can display a wide range of characteristics, varying from hermaphroditism to complete male or female, and can display sex chromosome chimerism in multiple tissues, including the gonads. The gonadal tissues of females contain both granulosa and germ cells. However, the specific sex chromosome composition of the granulosa and germ cells in 46,XX/XY chimeric female is currently unknown. Here, we reported a 30-year-old woman with secondary infertility who displayed a 46,XX/46,XY chimerism in the peripheral blood. FISH testing revealed varying degrees of XX/XY chimerism in multiple tissues of the female patient. Subsequently, the patient underwent preimplantation genetic testing (PGT) treatment, and 26 oocytes were retrieved. From the twenty-four biopsied mature oocytes, a total of 23 first polar bodies (PBs) and 10 second PBs were obtained. These PBs and two immature metaphase I (MI) oocytes only displayed X chromosome signals with no presence of the Y, suggesting that all oocytes in this chimeric female were of XX germ cell origin. On the other hand, granulosa cells obtained from individual follicles exhibited varied proportions of XX/XY cell types, and six follicles possessed 100% XX or XY granulosa cells. A total of 24 oocytes were successfully fertilized, and 12 developed into blastocysts, where 5 being XY and 5 were XX. Two blastocysts were transferred with one originating from an oocyte aspirated from a follicle containing 100% XY granulosa cells. This resulted in a twin pregnancy. Subsequent prenatal diagnosis confirmed normal male and female karyotypes. Ultimately, healthy boy-girl twins were delivered at full term. In summary, this 46,XX/XY chimerism with XX germ cells presented complete female, suggesting that germ cells may exert a significant influence on the sexual determination of an individual, which provide valuable insights into the intricate processes associated with sexual development and reproduction.