The Rare, Unexpected Condition of a Twisted Leiomyoma in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: Etiopathogenesis, Diagnosis and Management. Our Experience and Narrative Review of the Literature

Abstract

Uterine leiomyomas are a common finding in medical practice, but their frequency changes drastically when contextualized in a syndrome, as in the following case. A 50-year-old woman with a known Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome presented at our clinic with abdominal pain located in the lower quadrants and scarcely responsive to analgesic therapy. A twisted gynecological pelvic mass was diagnosed, and management for prompt resolution was adopted. Histologically the mass was described as a leiomyoma. The aim of the present study is to share our experience and to review the literature to compare different manifestation of the disease and different approach used in the various centers. The additional novelty of the paper is the immunohistochemical study we carried out on the leiomyoma that is contrasted with the current etiopathogenetic theories.

Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome

“…MKRH can either occur as an isolated form (type 1) or with additional extragenital phenotypes (type 2) such as renal or skeletal malformations [ 2 ]. Even though the occurrence of leiomyoma in women with MRKH is rare, multiple cases have been reported in the literature over the years, making it an important and easily overlooked differential diagnosis in MRKH patients presenting with abdominal pain [ 3 , 4 ]. Another difficulty women with MRKH face, is the inability to have sexual intercourse without previous neovagina surgery and to reproduce naturally.…”

Laparoscopic intervention for solid pelvic tumours in Mayer-Rokitansky-Küster-Hauser syndrome: a case of bilateral uterine adenomyomas of the rudimentary uterus

“… 3–8 12 13 Non-invasive imaging modalities, such as ultrasound, CT and MRI, are the first choices for the diagnosis of pelvic tumours. 12–14 However, in cases of uterine fibroids arising in a rudimentary uterus, the tumour may be located very close to the adnexa, often making evaluation based on imaging findings alone difficult and necessitating surgical intervention. Laparoscopic observation is an effective means of diagnosis.…”

Leiomyoma in Case of Mayer-Rokitansky-Küster-Hauser Syndrome: Difficulties in Diagnosis

“…This includes the presence of both single and multiple myomatous nodes, the detection of the myomatous node originating from the intraperitoneal part of the round ligament of the uterus [22], and recurrent leiomyoma [23] in patients with MRKH syndrome. There are data on the asymptomatic course of the disease and complicated cases that were an indication for urgent surgery [24].…”

“…Йдеться про наявність як поодиноких так і множинних міоматозних вузлів, виявлення міоматозного вузла, що походить з інтраперитонеальної частини круглої зв'язки матки[22], рецидивуючої лейоміоми[23] у пацієнток з синдромом MRKH. Наявні дані як про безсимптомний перебіг захворювання так і ускладнені випадки, що були показом до ургентного хірургічного втручання[24].…”