Marquet F, Verloes A, Beckers A
Centre Universitaire Wallon de Génétique, Université de Liège.
Rev Med Liege. 1998 Sep;53(9):515-7.
The XX males represent a rare expression of the Klinefelter syndrome associated with hypergonadotropic hypogonadism. Generally the patients are of small stature with normal secondary sexual male features but with small testes and constant sterility. The plasma concentrations of FSH and LH are very high in accordance with the decrease of the testicular function. From the genetic point of view, the XX males may be divided in 3 groups: 1) in 80% of cases, the XX males bear the SRY gene and exhibit a XY translation during the paternal meiosis with the presence of the SRY gene on one of the X chromosomes as a marker of the male differentiation; 2) in 10% of cases, the males are (SRY-)XX; the abnormal development is then due to other genes than the TDF, which, when mutated, can induce sexual male differentiation. The remaining 10% of cases are due to chromosomal mosaïcism with more XX than XY.
XX男性是克兰费尔特综合征的一种罕见表现形式，与促性腺激素分泌过多性性腺功能减退相关。一般来说，患者身材矮小，具有正常的男性第二性征，但睾丸较小且持续不育。随着睾丸功能减退，促卵泡生成素（FSH）和促黄体生成素（LH）的血浆浓度非常高。从遗传学角度来看，XX男性可分为3组：1）在80%的病例中，XX男性携带SRY基因，在父本减数分裂过程中表现为XY易位，其中一条X染色体上存在SRY基因作为男性分化的标志物；2）在10%的病例中，男性为（SRY-）XX；异常发育则归因于除睾丸决定因子（TDF）之外的其他基因，这些基因发生突变时可诱导男性性分化。其余10%的病例是由于染色体嵌合体，其中XX比XY更多。
