English

Abstract

Agenesis is a rare abnormality of paramesonephric ducts, which result in complete absence of uterus and fallopian tubes. In this article, cases of absent development of Mullerian ducts are presented, followed by a brief discussion of etiology, clinical presentation, diagnosis and management of the patient in Mullerian agenesis. Differential diagnosis in a patient presenting with primary amenorrhoea and normal external genitalia is discussed. INTRODUCTION: Mullerian agenesis is a Class I anomaly of development of Mullerian ducts in which Uterus, Fallopian tubes, Cervix and lower two thirds of the vagina are not developed 2.It presents with primary amenorrhoea with or without vaginal atresia (Mayer-Rokitansky-KusterHauser syndrome). However, the ovarian development is not hindered because of the different embryological pathways for the development of ovaries and Mullerian ducts. CASE REPORT: Case 1: A 14yr girl was referred to the department of Radiology with primary amenorrhoea. She had no cyclical abdominal pain. On examination, she had normal secondary sexual characters. She had female external genitalia. Pervaginal examination was not done. Patient was advised abdomino pelvic sonography. In pelvic sonography, uterus and cervix could not be visualized. Abdominal sonography showed normal kidneys. Patient was taken up for MRI of the abdomen and pelvis. Axial, coronal and sagittal planes including T1, T2, T2 STIR &Fat Sat, 3D TRUFISP sequences were obtained. Uterus and cervix were not visualized. However, distal two third of vagina was present. Left ovary was visualized and is normal and right ovary was not visualized (Patient has a history of pelvic surgery).Both kidneys showed normal appearance. No hydronephrosis noted. Karyotyping was not done due to non-affordability of the patient. Fig 1: T2 turbo spin echo image showing absence of uterus and cervix. UBUrinary bladder, RRectum.