Magnetic resonance imaging in patients of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome presenting with primary amenorrhoea: a prospective study

Abstract

Abstract Background This study aims to characterize the spectrum of imaging findings in patients of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome presenting with primary amenorrhoea. Objectives (1) To aid in clinical diagnosis of MRKH syndrome. (2) To detect the associated non gynecological anomalies. (3) To arrive at optimal management options. Results This prospective observational study was performed in 14 subjects who presented with primary amenorrhoea and diagnosed as MRKH on MRI from 1st January, 2021 to 30 June, 2022. Out of 14 patients, 4 patients showed hypoplastic uterus while remaining 10 showed complete uterine agenesis. Mean volume of hypoplastic uterus was 5.3 ml. Out of 10 patients with complete uterine agenesis, 9 showed bilateral rudimentary uterine buds connected by a fibrous band while 1 showed unilateral bud. 3 uterine buds showed three layered zonal differentiation of which 2 showed blood within lumen suggesting functioning endometrium. 1 uterine bud was located outside pelvis. Bilateral ovaries were noted in all 14 patients of which 4 ovaries were located outside pelvis and 1 ovary showed endometrioma within. 10 patients showed complete agenesis of proximal 2/3rd of vagina. Among non-gynecological findings, 2 showed unilateral renal agenesis and 1 showed unilateral hypoplastic kidney. 1 patient showed dorsal dermal sinus. Conclusions The findings in MRKH patients varies from complete uterine agenesis with rudimentary uterine buds or normal positioned hypoplastic uterus. The uterine buds can be functional with collection within endometrium and could lead to endometrioma formation due to retrograde menstruation. Ovaries and uterine buds can have an extra-pelvic location.

Keywords

• Mullerian agenesis
• Primary amenorrhoea
• Paramesonephric duct
• Uterine bud
• Functional endometrium
• Zonal differentiation of uterus