{"paper_id":"3ed8285a-04ff-4e15-b7e5-e21c3f05b76c","body_text":"Gynecol Surg (2004) 1:241–242\nDOI 10.1007/s10397-004-0057-5\nORIGINAL ARTICLE\nHakan Kaya · Mekin Sezik · Okan Ozkaya ·\nHasan Sahiner\nLarge endometrioma in an adolescent girl\nwith Mayer-Rokitansky-K/C252ster-Hauser syndrome\nPublished online: 21 September 2004\n/C23 Springer-Verlag Berlin / Heidelberg 2004\nAbstract A 14-year-old 46 XX female presented with\nprimary amenorrhea. A normal vagina ending in a blind\npouch was found at gynecological examination. Diag-\nnostic laparoscopy revealed the absence of a uterus with\nrudimentary fallopian tubes, round ligaments and utero-\nsacral ligaments. The left ovary contained a 7-cm choc-\nolate cyst, which was shown to be an endometrioma by\npathological examination. This rare occurrence of ovarian\nendometrioma coexisting with Mayer-Rokitansky-K/C252ster-\nHauser syndrome in an adolescent patient might be sec-\nondary to M/C252llerian-directed metaplasia in the ovaries.\nKeywords Endometrioma · Endometriosis ·\nMayer-Rokitansky-K/C252ster-Hauser syndrome ·\nRokitansky syndrome · M/C252llerian agenesis\nIntroduction\nMayer-Rokitansky-K/C252ster-Hauser (MRKH) syndrome\nprobably develops secondary to a defect or retardation of\nthe M/C252llerian ducts. In this condition, a superior part of the\nvagina, uterus and fallopian tubes are either hypoplastic or\naplastic. However, ovaries are usually normal [1].\nRetrograde menstruation and coelemic metaplasia are\ntwo proposed mechanisms in the etiology of endometrio-\nsis. We report a case of MRKH syndrome associated with\nsevere ovarian endometriosis in the adolescent period.\nCase report\nA 14-year-old phenotypic female was referred because of primary\namenorrhea. She did not have significant health problems in\nchildhood and was normal intellectually. There was no family\nhistory of consanguinity, miscarriage, neonatal deaths or other\nmembers with primary amenorrhea. On physical examination, no\nabnormalities were detected. Her height was 155 cm (30p), weight\n53 kg (50p) and blood pressure 100/80 mmHg. Thyroid, lung, heart\nand abdominal examinations were normal. No evidence of facial\ndysmorphism, webbing of the neck or any skeletal abnormality was\npresent. The secondary sexual characteristics assessment showed\naxillary hair stage 3, breast stage 3 and pubic hair stage 4 according\nto Tanner. A normal vagina ending in a blind pouch was found at\nthe gynecologic examination. The blood count, standard blood\nchemistry parameters and urinalysis were within normal limits.\nOther laboratory findings including the hormone profile are given\nin Table 1. All of the tests were normal except a moderate elevation\nof CA 125. Chromosome analysis revealed a 46,XX karyotype.\nTransabdominal sonogram showed a 68-mm complex ovarian mass\non the left side, and no uterus was found.\nAn exploratory laparoscopy revealed the absence of a uterus\nwith only remnants of rudimentary fallopian tubes, round ligaments\nand uterosacral ligaments. The right ovary was normal. The left\novary contained a chocolate cyst that was about 7 cm in diameter.\nLaparoscopic ovarian cystectomy by stripping the cyst wall off the\novary was performed. The pathology report described endometrial\nstroma and glands along with hemosiderin laden macrophages.\nDiscussion\nA process of retrograde menstruation may have an im-\nportant role in the establishment of endometriosis. Ob-\nstructive m/C252llerian anomalies are probably associated\nH. Kaya ( )) · M. Sezik · O. Ozkaya · H. Sahiner\nDepartment of Obstetrics and Gynecology,\nS/C252leyman Demirel University School of Medicine,\n32100 Isparta, Turkey\ne-mail: drhakankaya2002@yahoo.com\nTel.: +90-246-2112100\nFax: +1-801-3151416\nTable 1 Laboratory data\nParameter Value (Range)\nEstradiol (pg/ml) 55.3 (28-172)\nFollicle-stimulating hormone (mIU/ml) 3.8 (2.5-10.2)\nLuteinizing hormone (mIU/ml) 4.6 (1.9-12.5)\nProlactin (ng/ml) 11.0 (2.1-17.7)\nTotal Testosterone (ng/dl) 52.7 (14-76)\nFree testosterone (pg/ml) 0.91 (0.45-3.17)\nDehydroepiandrosterone sulfate ( mg/dl) 137 (10-333)\nThyroid stimulating hormone (mIU/ml) 0.9 (0.35-5.5)\nFree triiodoyhronine (pg/ml) 3.7 (2.3-4.2)\nFree thyroxine (ng/ml) 1.2 (0.9-1.8)\nCortisol ( mg/dl) 11.2 (4.3-22.4)\nCA 125 (U/ml) 63 (<35)\n\nmore with endometriosis as compared with nonobstruc-\ntive anomalies. A functioning endometrium, patent tubes\nand outflow obstruction are significantly associated with\nendometriosis [2]. However, the retrograde flow theory\ncannot explain the finding of endometriosis in which the\nmetastasis of normal endometrium could not occur or is\nhighly unlikely [3]. In our patient, menstruation was\nprobably not possible due to the hypoplastic uterus and\ntubes. The rudimentary tubes were not hydropic, and no\nevidence of accumulated menstrual blood was present.\nMany reports of endometriosis in adolescents are pres-\nent [4]. However, ovarian endometrioma in association\nwith Rokitansky syndrome has not been widely reported.\nWe believe that this rare occurrence may be secondary to\nm/C252llerian-directed metaplasia in the ovaries.\nThe coelemic epithelium is derived from the underly-\ning mesenchyme. M/C252llerian (paramesonephric) ducts are\nformed from the coelemic epithelium that invaginates at\nseveral points. The superficial stroma of the ovary is also\ncomposed of the mesenchyme and the coelemic epithe-\nlium [1]. This embryonic kinship may explain the coex-\nistence of an ovarian endometrioma and m/C252llerian agen-\nesis in our patient. Additional factors such as sensitivity to\nestrogens and the occurrence of ovulation may also be\nconsidered in the pathogenesis of endometriomas. In-\nduction of m/C252llerian-directed metaplasia by an increase in\nestrogens following puberty (as in our patient) could be\npossible. The beginning of ovulation might also trigger\nthe metaplasia to end with endometrioma formation.\nReferences\n1. Ludwig KS (1998) The Mayer-Rokitansky-K/C252ster syndrome:\nan analysis of its morphology and embryology. Part I. Mor-\nphology. Arch Gynecol Obstet 262:1–26\n2. Olive DL, Henderson DY (1987) Endometriosis and m/C252llerian\nanomalies. Obstet Gynecol 69:412–415\n3. Fujii S (1995) Secondary m/C252llerian system and endometriosis.\nAm J Obstet Gynecol 165:219–225\n4. Sanfilippo JS, Wakim NG, Schikler KN, Yussman MA (1986)\nEndometriosis in association with uterine anomaly. Am J Ob-\nstet Gynecol 154:39–43\n242","source_license":"CC0","license_restricted":false}