46，XX男性性逆转综合征发生机制及其导致不育的原因探讨

Exploration of genesis mechanism and the infertility cause in 46, XX males with sex reversal syndrome

目的分析性逆转综合征患者Y染色体性别决定因子（SRY）及AZF是否存在缺失并探讨其发生机制及导致不育的原因。方法利用PCR方法对4例被确诊为性逆转综合征的男性不育患者进行Y染色体SRY因子及6个AZF位点（SY84，SY86，SY127，SY134，SY254及SY255）进行检测，利用化学发光法进行血清卵泡刺激素（FSH），黄体生成素（LH）及睾酮（T）的测定，利用彩色多普勒进行盆腔探查。结果4例性逆转综合征患者Y染色体SRY因子均存在，但其中2例6个AZF位点均缺失，1例SY127，SY134，SY254及SY255缺失，1例SY254及SY255缺失。血清中T水平降低，FSH和LH水平上升。盆腔彩色多普勒探查均见双侧睾丸小，前列腺和精囊腺发育不良，未见子宫及附件等女性内生殖器组织。结论Y染色体SRY因子存在是该性逆转综合征患者表现为男性的原因，而性腺发育不良导致的睾丸功能低下及Y染色体AZF位点的缺失是导致其不育的原因。

Objective To analyze the deletion ofgene SRY and AZF on Y chromosome for better understanding of the genesis mechanism and the infertility cause in 46, XX males with the sex reversal syndrome. Methods The expression of SRY gene and six AZF sites （SY84, SY86, SY127, SY134, SY254 and SY255） on Y chromosome were detected by PCR in four male infertile patients with the sex reversal syndrome. The levels of serum FSH ,LH and T were detected by chemiluminescence analysis, and the pelvic cavity was oberserved by color Doppler. Results The expression of SRY gene was found in four sex reversal syndrome patients, and the deletion of all the six AZF sites were found in two cases, and deletion of one SY127, SY134, SY254 and SY255 sites were found in 1 case, and deletion of SY254 and SY255 sites in the other one. The level of serum T was decreased, but the levels of serum FSH and LH were increased. The pelvic cavity research demonstrated smaller bilateralis testis, and dysplasia of the prostate and seminal vesicle. There was no sign of the female internal genital organs, such as uterus and accessories. Conclusion The expression of SRY gene might be associated with male manifestations in patients with the sex reversal syndrome, and dysplasia of the sex gland and microdeletion of AZF might be related to infertility.