A Rare Autopsy Finding of Müllerian and Renal Agenesis Linked to Suspected AMHR2 Pathway Disruption
Year: 2025
Type: article
Study design: Case Report
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.
Source: Cureus
DOI: 10.7759/cureus.96023
Authors: Zoë Rushetsky, Mariah Smith, Marcel Castor
Institution: Philadelphia College of Osteopathic Medicine
Language: English
Subfield: Obstetrics and Gynecology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4415827933