[Typical form of Mayer-Rokitansky-Küster-Hauser syndrome and ectopic kidney. A rare association]

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a spectrum of Müllerian anomalies characterized by congenital vaginal aplasia and absent uterus or a rudimentary one in female subjects with normal endocrine status. The ovaries and fallopian tubes are present. The prime feature is a primary amenorrhea in women presenting normally developed secondary sexual characteristics and normal external genitalia. The etiology remains unknown. This syndrome is subdivided in two types. It may be isolated (type I) or associated with other malformations (type II). Type I is less frequent than type II. We report a case of MRKH syndrome in a 21-year-old woman who presented a primary amenorrhea studied with transabdominal and pelvic ultrasonography and pelvic magnetic resonance, which demonstrated a complete agenesis of uterus, a functional cyst in the right ovary, and a left pelvic ectopic kidney. We studied the MRKH syndrome with review of the literature.