Case Report

J Korean Soc Pediatr Endocrinol. 2005; 10(1): 110-114.

A Case of Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome with Amenorrhea and Sexual Precosity.

Jong Gyun Ahn, Hey Sung Baek, and Jeh Hoon Shin

Department of Pediatrics, College of Medicine, Hanyang University, Seoul, Korea. hjshin@hanyang.ac.kr

The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is comprised of vaginal atresia with other variable Mullerian duct abnormalities. Its features include an absent or very short vagina and a uterus that can be absent or immaturely formed. Female with MRKH syndrome have functioning ovaries, normal external genitalia and the typical 46, XX, karyotype. MRKH syndrome is the second most common cause of primary amenorrhea, usually remains undetected until the patient presents with primary amenorrhea despite normal sexual female development. We report a case of MRKH syndrome, associated with ovarian follicular cyst, in a 14-years-old girl who visited for primary amenorrhea and sexual precosity.

Keywords : Mayer-Rokitansky-Kuster-Hauser syndrome, Amenorrhea, Sexual precosity