Melody Sutedja
Mariano Marcos Memorial Hospital and Medical Center, Phlippines
Title: Mayer-rokitansky-kuster-hauser syndrome with hyperandrogenemia: a rare case of mullerian dysgenesis
Biography
Biography: Melody Sutedja
Abstract
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome with hyperandrogenism is a spectrum of Müllerian duct anomalies characterized by congenital aplasia of the uterus and of the upper part (2/3) of the vagina, in young women presenting infrequently with high level of testosterone. The ovaries and fallopian tubes are present. It is one of the most common causes of primary amenorrhea and affects at least 1 out of 4500 women however there only 4 cases were reported of MRKH syndrome associated with hyperandrogenemia in literature. The MRKH syndrome usually remains undetected up until the patient complains with primary amenorrhea regardless of normal development of secondary sexual physical characteristics. We report a case of MRKH syndrome with hyperandrogenism in a 21-year-old female who presented with primary amenorrhea, Physical examination include Tanner stage 5 breasts, Pubic hair stage IV with absence of cervix, short vaginal canal and no clitoromegaly. Transvaginal ultrasound revealed an infantile uterus while MRI shows small uterus with inactive endometrium and incidental findings of Tarlov cyst. Counseling, assurance and supportive psychotherapy were given to the patient. Follicle stimulating hormone, chest X-ray, 75 gram oral glucose tolerance test, BUN, creatinine, audiogram and electrocardiogram results were all within normal ranges. Chromosomal analysis was 46 XX karyotype. Serum testosterone was markedly elevated at 11.1 nmol/L, above the normal values for both male and female.