Cause of primary amenorrhea in a Filipina: The mayer-rokitansky-kuster-hauser syndrome (mullerian agenesis, congenital absence of the uterus and vagina)

Background: A rare case of Mayer-Rokitansky-Kuster-Hauser syndrome is reported here. A 26 year old Filipina with primary amenorrhea consults for inability to consummate sexual intercourse with a male partner. She is phenotypically female - has female secondary sexual characteristics, and has normal female external genitalia. There is a shallow vaginal dimple. Absence of the upper vagina and uterus has been demonstrated by transrectal ultrasound. Ultrasound and intravenous pyelography have documented the absence of the left kidney. 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.