سامانه همایش های دانشگاه آزاد اسلامی واحد نجف آباد

صفحه اصلی / اولین همایش بین المللی تحول خدمات سلامت: تلفیق مراقبت، درمان، بازتوانی و امیدبخشی

Primary Amenorrhea Associated with Congenital Vaginal Anomaly and Uterine Hypoplasia: A Case Report of Suspected Mayer-Rokitansky-Küster-Hauser Syndrome

نویسندگان :

Reyhaneh Abbasi¹ Negin Jazayerinezhad²

1- دانشگاه آزاد اسلامی واحد علوم پزشکی مشهد 2- دانشگاه آزاد اسلامی واحد علوم پزشکی مشهد

کلمات کلیدی :

Amenorrhea،Vaginal agenesis،Müllerian Ducts،Uterine Anomalies،Mayer-Rokitansky-Küster-Hauser Syndrome

چکیده :

Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital Müllerian anomaly characterized by uterine and upper vaginal agenesis or hypoplasia in individuals with a 46,XX karyotype and preserved ovarian function(1, 2) . Primary amenorrhea with normal secondary sexual characteristics should raise suspicion of Müllerian anomalies. This case report describes the clinical features, diagnostic evaluation, and fertility counseling of a woman with suspected MRKH syndrome. Method: A 30-year-old married woman with primary amenorrhea presented for fertility evaluation and counseling. She reported normal secondary sexual characteristics. Previous evaluations reportedly identified a congenital vaginal anomaly described as a “blind vagina,” uterine hypoplasia, visualization of both ovaries, and a normal 46,XX karyotype; however, reports were unavailable. Ovarian function and reserve tests, including anti-Müllerian hormone and follicle-stimulating hormone, thyroid function tests, and complete blood count were requested. Semen analysis was also recommended for her husband. Findings: Primary amenorrhea, normal secondary sexual characteristics, reported 46,XX karyotype, uterine hypoplasia, and congenital vaginal anomaly raised suspicion of MRKH syndrome (3, 4). Fertility options, including a gestational carrier if ovarian function were confirmed, were discussed. The patient was referred to a fertility center; investigation results and follow-up data were unavailable. Conclusion: Primary amenorrhea with normal secondary sexual characteristics warrants evaluation for Müllerian anomalies. In suspected MRKH syndrome, assessment of reproductive anatomy and ovarian function, evaluation for associated anomalies, and fertility counseling are essential (2, 5). When previous diagnostic records are unavailable, further investigation may be required to establish the diagnosis and guide management.