A Rare Autopsy Finding of Müllerian and Renal Agenesis Linked to Suspected AMHR2 Pathway Disruption

罕见的尸检发现:苗勒氏管和肾脏发育不全与疑似AMHR2通路紊乱有关

阅读:1

Abstract

We present a rare incidental finding of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome identified during the autopsy of a reproductive-aged woman who died in a motor vehicle accident. In situ examination showed the absence of both the uterus and cervix, with the vaginal canal ending in a blind pouch that measured 7.0 × 6.0 cm, with a depth of 4 cm. Both ovaries were present and positioned high near the iliac vessels, demonstrating multiple cysts upon cut surfaces. The bilateral fallopian tubes were absent in their entirety. The right kidney, along with its hilar vessels and ureter, was also absent, while the left kidney and its associated structures were present but slightly enlarged. The bilateral adrenal glands were normally positioned and grossly unremarkable. The combination of absent uterus, cervix, and right kidney, along with ascended ovaries, is consistent with a developmental abnormality involving the anti-Müllerian hormone (AMH) pathway and potential disruption of the AMHR2 gene. Recognition of these anomalies in an adult female contributes to a deeper understanding of congenital reproductive and renal malformations in females. It highlights the possible role of the AMH pathway in their embryologic development.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。