Unusual form of Mullerian Agenesis Syndrome

A rare case of Mayer-Rokitansky-Kuster-Hauser syndrome is reported. A 24 year old, Egyptian female with primary amenorrhea, primary infertility since 24 months, and difficulty in sexual intercourse with a male partner.She is phenotypically female – has well devolped female secondary sexual characteristics – and has normal female external genitalia. There is a shallow vaginal dimple. Absence of the upper vagina and two uterine buds separate from each other demonstrated by MRI and laparoscopy. Ultrasound and intravenous pyelography have documented no renal anomalies. Chromosomal analysis reveals a normal female karyotype (46, XX). Endocrine evaluation shows normal levels of estradiol, follicle-stimulating hormone and luteinizing hormone. Radiographs did not reveal any associated skeletal abnormalities. Aside from this being a rare case of a disorder of sexual development, this is worth reporting because it illustrates the diagnostic work-up of a patient presenting with primary amenorrhea