46,XX女性性腺发育不全与 Mayer-Rokitansky-Kuster-Hauser综合征并存：一例报告及文献复习
Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature.
作者信息
Shah Viral N, Ganatra Parth J, Parikh Rajni, Kamdar Panna, Baxi Seema, Shah Nishit
机构信息
Barbara Davis Center for Diabetes, Aurora, Colorado, USA.
出版信息
Indian J Endocrinol Metab. 2013 Oct;17(Suppl 1):S274-7. doi: 10.4103/2230-8210.119605.
Abstract
The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare. We report a 21-year-old phenotypical female who presented with primary amenorrhea and underdeveloped secondary sexual characteristics. Hormonal evaluation revealed hypergonadotropic hypogonadism. Her karyotype was 46XX. Laparoscopy of pelvis revealed absent uterus, normal fallopian tubes and bilateral streak ovaries, which were biopsied and histopathology was consistent with the findings of gonadal dysgenesis. We searched PubMed for similar reports in the literature and details of all the cases were analyzed and reported here.
摘要
性腺发育不全与迈耶-罗基坦斯基-库斯特-豪泽综合征的关联非常罕见。我们报告了一名21岁的表型女性，她表现为原发性闭经和第二性征发育不全。激素评估显示高促性腺激素性性腺功能减退。她的核型为46XX。盆腔腹腔镜检查显示子宫缺如、输卵管正常以及双侧条索状卵巢，对卵巢进行了活检，组织病理学结果与性腺发育不全的表现一致。我们在PubMed上搜索了文献中的类似报告，并对所有病例的细节进行了分析并在此报告。
相似文献
1
Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature.
Indian J Endocrinol Metab. 2013 Oct;17(Suppl 1):S274-7. doi: 10.4103/2230-8210.119605.
2
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Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report.
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