Nonomura Katsuya, Kakizaki Hidehiro, Shibata Takashi, Moriya Kimihiko
Department of Urology, Renal and Genito-Urinary Surgery, Hokkaido University, Graduate School of Medicine.
Nihon Rinsho. 2004 Feb;62(2):313-9.
Testicular dysgenesis derives from abnormal gonadal differentiation caused by sex chromosome abnormality. Individuals with sex chromosomal mosaicism manifest diverse phenotypes from phenotypic females and individuals with mixed gonadal dysgenesis (MGD) to males. Gonadal asymmetry in MGD is cytogenetically due to local prevalence of cell lines carrying different karyotypes; XO in the streak gonad and XY in the dysgenetic testis while sex chromosome abnormalities in blood do not always reflect the genital abnormalities. Gender assignment should be based on the potential for normal function of the external genitalia under the parents agreement. Laparoscopic and microscopic surgery facilitates the diagnosis and treatment in infants with MGD and its variants. Close follow-up is mandatory for detecting the highly prevalent gonadal tumor in male subjects.
睾丸发育不全源于性染色体异常导致的性腺分化异常。患有性染色体嵌合体的个体表现出多样的表型，从表型女性、混合性性腺发育不全（MGD）个体到男性。MGD中的性腺不对称在细胞遗传学上是由于携带不同核型的细胞系局部占优势；条索状性腺中为XO，发育异常的睾丸中为XY，而血液中的性染色体异常并不总是反映生殖器异常。性别分配应在父母同意的情况下，基于外生殖器正常功能的可能性来进行。腹腔镜和显微手术有助于MGD及其变异型婴儿的诊断和治疗。对于男性患者，必须进行密切随访以检测高度常见的性腺肿瘤。
