Bousfiha N, Errarhay S, Saadi H, Ouldim K, Bouchikhi C, Banani A
Department of Gynecology Obstetric I, Teaching Hospital Hassan II, Fez 30000, Morocco.
Obstet Gynecol Int. 2010;2010:847370. doi: 10.1155/2010/847370. Epub 2010 Dec 29.
Introduction. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental, independent of chromosomal anomalies. Case Report. We report the case of a 19-year-old woman who presented primary amenorrhea and impuberism. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46XX. No chromosome Y was detected at the FISH analysis. Internal genitalia could not be identified on the pelvic ultrasound and pelvic MRI. Laparoscopy was undertaken and revealed concomitant ovarian dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. There were no other morphological malformations. Conclusion. The pathogenesis of the association of gonadal dysgenesis and Mayer Rokitansky kuster hauser syndrome is still mysterious. The treatment is based essentially on hormone substitution therapy. The fertility prognosis is unfortunately compromised.
引言。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，似乎是巧合，与染色体异常无关。病例报告。我们报告一例19岁女性，表现为原发性闭经和青春期发育延迟。内分泌检查显示高促性腺激素性性腺功能减退。核型正常，为46XX。荧光原位杂交分析未检测到Y染色体。盆腔超声和盆腔磁共振成像均未发现内生殖器。进行了腹腔镜检查，发现合并性腺发育不全和迈耶-罗基坦斯基-库斯特-豪泽综合征。无其他形态学畸形。结论。性腺发育不全与迈耶-罗基坦斯基-库斯特-豪泽综合征关联的发病机制仍然不明。治疗主要基于激素替代疗法。遗憾的是，生育预后受到影响。
