An unusual association of type II Mayer-Rokitansky-Kuster-Hauser syndrome, turner mosaic syndrome and tubo-ovarian inguinal hernia– case report and review of literature

BACKGROUND: Herniation of ovaries and Mullerian structures into inguinal canal is usually reported in infants and is rare among adults. We are presenting a rare case of Mullerian agenesis and Turner mosaic syndrome with tubo-ovarian inguinal hernia. CASE PRESENTATION: A 17-year-old girl presented with complaints of primary amenorrhea, phenotypical features of Turner syndrome with left inguinal hernia and severe hypertension. Baseline hormonal analysis was normal. Karyotype revealed Turner mosaic with 46XX (85%); 45XO (15%). MRI showed Mullerian agenesis with normally located right ovary in pelvis and left ovary prolapsed through deep inguinal ring into the canal of Nuck. Anti-hypertensives were started and patient optimized for surgery. Laparoscopic hernia repair and repositioning of left ovary into the pelvis was done. Patient had uneventful post-operative course and was discharged in stable condition on anti-hypertensive medication. Future reproductive issues and need of passive vaginal dilatation or vaginoplasty before marriage were explained to the patient and family. CONCLUSION: This is the first ever reported case with unusual association of atypical MRKH, Turner mosaic syndrome and tubo-ovarian hernia into the inguinal canal. The case emphasizes the need and importance of complete work up of these atypical cases as patients may have more than one cause of primary amenorrhea and complete evaluation is must before any medical or surgical intervention.