Isolated Mayer–Rokitansky–Kuster–Hauser syndrome (MRKH): Case Report

Abstract

Background:Mayer–Rokitansky–Kuster–Hauser syndrome (MRKH) is a rare complex of congenital
malformations characterized by aplasia of the uterus and upper (two-thirds) vagina in a woman with normal
ovaries and fallopian tubes, secondary sexual characteristics and a 46XX karyotype. The clinical symptoms of
MRKH syndrome are usually primary amenorrhea but with normal thelarche and adrenarche, as well as sexual
intercourse disorders and infertility.
Case report:In this case, a 22-year-old nulliparous woman with a female phenotype and normal secondary sex
growth presented with primary amenorrhea and difficulty in sexual intercourse. On internal examination, the
length of the vagina was 4 cm and the cervix was not palpable. Transvaginal ultrasound examination did not show
a picture of the uterus, but both ovaries were normal size and there were several follicles. Diagnostic laparoscopy
showed bilateral ovaries with intact tubes, but no uterus.
Conclusion: Women with MRKH syndrome usually have normal ovarian function and usually present with
primary amenorrhea. Treatment of MRKH syndrome must include sexological care of the patient and his
partner.6The American College of Obstetricians and Gynecologists (ACOG) recommends dilation therapy as firstline
treatment and vaginoplasty surgery should be performed for patients who have failed dilation therapy.