Torsion Adnexal Mass in a Patient with Mullerian Agenesis
Journal of Evolution of Medical and Dental Sciences
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterised by underdevelopment of vagina and uterus. This may be due to early arrest in the development of the Mullerian duct causing aplasia of the vagina and uterus. The paramesonephric duct or mullerian duct develop to form the fallopian tubes, corpus and cervix of the uterus along with upper portion of the vagina. The mullerian ducts have smooth muscle cells existing at the proximal ends, from which the leiomyoma originates. Since the
... ates. Since the uterus is underdeveloped, these leiomyomas of larger size may have a mass effect increasing the risk of torsion due to large volume disparity. Here we report one such case of a torsion of a huge leiomyoma arising from the left adnexa in a patient with MRKH syndrome who presented as acute abdomen. Mullerian agenesis also termed to be Mayer-Rokitansky-Küster-Hauser syndrome is a syndrome first studied by Mayer; later by Rokitansky, Küster and Hauser. This is described as a spectrum of anomalies such as congenital hypoplastic or absence of uterus, hypoplastic fallopian tubes and blind vagina in a female (46XX genotype) with normal secondary sexual characters and normal endocrine status. The incidence of MRKH syndrome is 1 in 4000 female births. 1 The ovaries develop normally as they are derived from the genital ridge and the hence the sex hormones are found to be normal. Associated anomalies include renal, skeletal, cervicothoracic and auditory defects in the most severe form. 2 The pathogenesis of formation of leiomyomas in MRKH syndrome is not yet known but it is found that these leiomyomas have oestrogen and progesterone receptors as seen in the normal uterine histopathological picture responding to the sex steroids mainly oestrogen released from the ovaries. This acts as a promotor for the increase in the size of leiomyomas in the rudimentary uterine tissues. The risk of torsion in a large pedunculated leiomyoma arising from a small uterine remnant is increased secondary to its mass effect. 3 P R E SE N T A T I O N O F C A S E A 43-year-old unmarried female, presented to the emergency room with acute onset of severe abdominal pain, not relieved by medications for 2 days. Patient did not attain menarche. She is a known case of Mullerian agenesis. No history of urinary complaints. No past history of use of any contraceptives or vaginal dilators. On physical examination; pallor was noted and vitals were found to be within normal limits. Abdomen was tense with diffuse tenderness and guarding over the lower abdomen. A 10 x 8 cm vague tender mass was palpable in the hypogastrium, partly mobile and bowel sounds were present. Breasts and pubic hair are well developed to Tanner's stage V. Labia majora and minora was underdeveloped for age. Vaginal introitus was not seen. Rectum was found be loaded with stools.