Mayer-Rokitansky-Küster-Hauser syndrome

Abstrak. Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) adalah suatu sindrom yang ditandai dengan aplasia uterus, serviks, dan 2/3 vagina bagian atas karena perkembangan yang tidak sempurna dari duktus Mullerian. Dilaporkan seorang perempuan berusia 26 tahun yang mengeluh belum pernah menstruasi sampai saat ini. Secara fenotip pasien tampak sebagai perempuan yang memiliki perawakan normal. Payudara dan distribusi pertumbuhan rambut aksila serta kemaluan berkembang normal, disertai pertumbuhan lemak pada bokong dan paha. Tuba fallopi, rahim, dan vagina 2/3 proksimal tidak terbentuk. Pada pemeriksaan klinis ginekologi tampak introitus vagina dengan sonde vagina sepanjang 2 cm. Pemeriksaan USG abdominal, uterus berupa garis dan kedua ovarium sulit dinilai. Pemeriksaan MRI didapatkan agenesis uterus dan agenesis adnexa. Pemeriksaan analisa hormonal, LH 9,81 mIU/mL, FSH 6,87 mIU/mL, progesteron 0,51 ng/mL, estradiol 46,4 pg/mL, testosteron 60,45 mg/dl, TSH 1,216 mIU/L, T4 11 ug/dl, serta analisa kromosom 46XX. Pasien direncanakan untuk dilakukan vaginoplasti.Kata kunci : sindrom MRKH, anomali duktus Mulleri, vaginoplastiAbstract. Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) is a syndrome characterized by uterine, cervix, and the two third of upper vagina aplasia which is the cause of incomplete development of the Müllerian duct. Reported a case of woman 26 years old, patient has not menstruated until now. The phenotype of the patient appears to be female, and with normal stature. Breast, axilla dan pubic hair distribution, fatty in buttocks and thigh developed normally. Fallopian tubes, uterine and 2/3 upper part of vagina were not formed. On gynecological clinical examination, found vaginal introitus with a vaginal sonde was 2 cm. On abdominal ultrasound examination, the uterus was seen as a line and both ovaries were difficult to assess. MRI examination obtained theresults as uterine and adnexa agenesis. Hormonal analysis showing LH 9.81 mIU/mL, FSH 6.87 mIU/mL, progesteron 0.51 ng/mL, estradiol 46.4 pg/mL, testosterone 60.45 mg/dl, TSH 1.216 mIU/L, T4 11 ug/dl, and chromosome examination is 46 XX. Patient are planned for vaginoplasty. Key words: MRKH syndrome, mullerian duct anomalies, vaginoplasty