Adenomyosis in a Woman with Type II Mayer–Rokitansky–Küster–Hauser Syndrome: A Case Report

Aim and background: Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome, also referred to as Mullerian aplasia, is the second most common cause of primary amenorrhea and is a congenital anomaly caused by defective Mullerian duct development.It is characterized by the aplasia of the uterus, the upper part of the vagina in females with normal secondary sex characteristics and a normal female karyotype (46, XX).Adenomyosis in such patients has been rarely described in literature hence we will be presenting this case.Case description: This is a case of a 35-year-old phenotypical female, nulligravida with primary amenorrhea complaining of cyclical lower pain abdomen that had worsened over the past 1 year not relieved with medications.Clinical examination revealed smooth vaginal mucosa ending in a blind pouch.Karyotype revealed normal female karyotype 46, XX.Magnetic resonance imaging (MRI) was suggestive of adenomyosis in uterine buds with an absent left kidney.The patient underwent exploratory laparotomy with subtotal hysterectomy with right salpingectomy.On further follow-up, histopathologic examination confirmed the diagnosis of adenomyosis.Conclusion: In our case, there was no functional endometrium as confirmed histologically.Rather than direct invasion of eutopic endometrium, this patient's adenomyosis may be due to metaplasia.Clinical significance: Although rare, the possibility of adenomyosis cannot be completely ruled out in a hypoplastic uterus.The management of patients with MRKH syndrome presenting with abdominal pain should be guided by clinical findings and imaging modalities (ultrasonography and MRI).It is necessary to remove mullerian remnants if they become pathologic.