A Case of Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome with Bilateral Gonadal Agenesis / 고신대학교의과대학학술지

ABSTRACT

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. MRKH syndrome usually remains undetected until the patient presents with primary amenorrhea despite normal female sexual development. MRKH syndrome is the second frequent cause of primary amenorrhea. There have been several reports concerning gynecologic disease in MRKH syndrome, but there has been few case about MRKH syndrome with gonadal agenesis. We report an exceptional association between bilateral ovarian agenesis 46,XX and MRKH syndrome. A 27-year-old woman who presented with primary amenorrhea and absence of secondary sexual development. She had normal, 46XX karyotype, but no upper vagina, uterus and both ovary. And there was no urogenital and skeletal malformation. She was diagnosed as the atypical form of MRKH syndrome (bilateral gonadal agenesis 46 XX).