The Mayer Rokitansky Kuster Hauser syndrome presenting with left ovarian herniation: expanding the clinical spectrum

Abstract

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian aplasia, is a congenital disorder where the uterus and the upper part of the vagina are underdeveloped or absent. Individuals with MRKH have a normal female karyotype (46,XX), normal external genitalia, and normal development of secondary sex characteristics(1). The syndrome is usually diagnosed in late adolescence when patients experience primary amenorrhea. A rare illness with extremely few occurrences documented in the literature, MRKH syndrome is present in 1 in 4,000 to 1 in 5,000 female patients and is associated with inguinal hernias harboring ovarian tissue. We present a case of ovarian hernia linked to MRKH syndrome.
A young woman in her 30’s presented with a history of primary amenorrhea since adolescence. Despite seeking medical advice in her teenage years, no major abnormality was identified at that time. She experienced three unsuccessful marriages and finally she sought gynecological evaluation. Pelvic magnetic resonance imaging (MRI) revealed the absence of the uterus, cervix, and upper 2/3rd of vagina, consistent with Müllerian agenesis. A unique finding of left ovarian herniation into the canal of Nuck was also noted.While both types of MRKH can be assocuatd with an inguinal hernia but type II have higher likelihood .In our case it was linked to type I MRKH that makes it further atypical and rare.
Our case highlights the importance of thorough imaging and clinical examination in the evaluation of primary amenorrhea and infertility. It also underscores the need for increased awareness of rare congenital anomalies that may impact reproductive health and require multidisciplinary management.
KEYWORDS: Mullerian agenesis, primary amenorhea, inguinal hernia.