先天性无子宫无阴道遗传学特征1例分析  

Genetic characteristics of a case with no uterus and vagina

作　　者：铁缨[1] 金英子[1] 杨康鹃[2] 

机构地区：[1]延边大学临床医学院,吉林延吉133000 [2]延边大学医学院细胞生物学与医学遗传学教研室,吉林延吉133002

出　　处：《中国性科学》2013年第9期29-30,共2页Chinese Journal of Human Sexuality

摘　　要：患者女性,23岁,因"原发性月经未来潮"于2013年6月来本院就诊。主诉原发性闭经,无周期性下腹疼痛。检查女性第二性征发育良好,前庭窝尚未见尿道口及处女膜,肛诊未触及子宫,但触及到左右附件。B超未探及子宫,但探及到左右卵巢和阴道黏膜线。性激素和垂体激素检测均正常,X染色质阳性,为正常女性核型(46,XX)。诊断为"先天性无子宫和阴道"。本文就其遗传学特征进行分析。A 23 -year- old female patient with primary amenorrhea went to the Clinical College of Yanbian University in June, 2013. The clinical body examination showed no periodical hypogastralgia, fine development of female secondary sexual characters, no urethral meatus and maidenhead found in vestibular concavity, no womb but left and right ovaries and oviduct found by rectal touch. No womb but left and right ovaries and vaginal mucosa line was found by B uhrasonogTaphy. The levels of sex hormones and hypophyseal hormones were normal, and X chromatin was positive with normal female karyotype （46, XX）. The final diagnosis was congenital absence of uterus and vagina. This paper analyzes the genetic characteristics of the case.

关 键 词：先天性 无子宫无阴道 

分 类 号：R711.1[医药卫生—妇产科学]