Marrakchi A, Gharbi Mh, Kadiri A
Service d'Endocrinologie, Diabétologie et Nutrition, CHU Ibn Sina, Rabat, Maroc.
Ann Endocrinol (Paris). 2004 Oct;65(5):466-8. doi: 10.1016/s0003-4266(04)95953-7.
Gonadal dysgenesis with female phenotype is defined as the absence or insufficient development of the ovaries. Hypogonadism or impuberism are variable, depending on the degree of gonadal development. Mayer-Rokitansky-Küster-Hauser syndrome is a rare malformative anomaly (1/5000 women) associating uterine and vaginal aplasia with normal ovaries. We report the case of a 19-year-old woman who presented primary amenorrhea and impuberism. Hormone assay revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46XX. Internal genitalia could not be identified on the pelvic ultrasound. Laparoscopy was undertaken and revealed concomitant ovarian dysgenesis and Mayer-Rokitansky-Küster-Hauser syndrome. There were no other morphological malformations. An association between these two conditions is very exceptional and appears to be coincidental, independent of chromosomal anomalies. Hormone substitution therapy remains the only therapeutic option. Hormone substitution is aimed at triggering the development of secondary sexual characters and prevent osteoporosis. There remains the unsolved problem of infertility.
具有女性表型的性腺发育不全被定义为卵巢缺失或发育不全。性腺功能减退或青春期发育延迟各不相同，取决于性腺发育程度。梅耶-罗基坦斯基-库斯特-豪泽综合征是一种罕见的畸形异常（每5000名女性中有1例），伴有子宫和阴道发育不全但卵巢正常。我们报告了一名19岁女性的病例，她出现原发性闭经和青春期发育延迟。激素检测显示高促性腺激素性性腺功能减退。核型正常，为46XX。盆腔超声未发现内生殖器。进行了腹腔镜检查，发现同时存在卵巢发育不全和梅耶-罗基坦斯基-库斯特-豪泽综合征。没有其他形态学畸形。这两种情况之间的关联非常罕见，似乎是巧合，与染色体异常无关。激素替代疗法仍然是唯一的治疗选择。激素替代旨在促进第二性征发育并预防骨质疏松症。不孕症问题仍然未得到解决。
