Rare case of leiomyoma in Mayer-Rokitansky-Kuster-Hauser syndrome

Sonal Bhuyar
In: International Journal of Reproduction, Contraception, Obstetrics and Gynecology · 2014 · pp. 488–490 · doi:10.5455/2320-1770.ijrcog20140647 · W2091758074
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This report details a rare instance of a leiomyoma developing in a rudimentary uterine bulb in a 45-year-old patient with Mayer-Rokitansky-Kuster-Hauser syndrome and vertebral abnormalities.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-08 · read from full text ⓘ

This paper reports a rare clinical case of leiomyoma occurring in a patient with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, which causes primary amenorrhea with a blind vaginal pouch and rudimentary uterine primordia. A 45-year-old patient presented with primary amenorrhea and lower abdominal pain, underwent investigation and laparotomy for a provisional diagnosis of hematometra or an ovarian tumor, and histopathology confirmed leiomyoma in one rudimentary bulb; vertebral abnormalities were also noted. The authors state that MRKH syndrome has a low incidence and that association with pelvic tumors is even rarer, which is why the case is reported. Relevance to endometriosis: adenomyosis is mentioned in the context of MRKH-associated rare development of endometrial-tissue–related lesions (including cited work on adenomyosis), though this paper’s primary focus is on a leiomyoma case in MRKH rather than endometriosis.

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Abstract

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a cause for primary amenorrhea. It is characterized by the presence of XX karyotype, normal ovarian function and blind vaginal pouch. The uterus is usually represented by bilateral rudimentary primordia. Presence of functioning endometrial tissue may lead to development of hematometra in one or both primordia. Rarely myomas, neoplasms and adenomyosis can develop in the rudimentary bulbs. MRKH syndrome is frequently associated with urologic and skeletal abnormalities. In this case, a 45 year old patient presented with primary amenorrhea and lower abdominal pain. On examination, she had a blind vaginal pouch and a pelvic mass. She was investigated and taken for laparotomy with a provisional diagnosis of hematometra or ovarian tumor. The mass turned out to be leiomyoma in one of the rudimentary bulbs which was confirmed on histopathology. Our patient had vertebral abnormalities too. The incidence of MRKH syndrome is less and its association with pelvic tumor is even rarer. Hence this case is reported.
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Keywords

Mullerian dysgenesis, LeiomyomaAbstract Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a cause for primary amenorrhea. It is characterized by the presence of XX karyotype, normal ovarian function and blind vaginal pouch. The uterus is usually represented by bilateral rudimentary primordia. Presence of functioning endometrial tissue may lead to development of hematometra in one or both primordia. Rarely myomas, neoplasms and adenomyosis can develop in the rudimentary bulbs. MRKH syndrome is frequently associated with urologic and skeletal abnormalities. In this case, a 45 year old patient presented with primary amenorrhea and lower abdominal pain. On examination, she had a blind vaginal pouch and a pelvic mass. She was investigated and taken for laparotomy with a provisional diagnosis of hematometra or ovarian tumor. The mass turned out to be leiomyoma in one of the rudimentary bulbs which was confirmed on histopathology. Our patient had vertebral abnormalities too. The incidence of MRKH syndrome is less and its association with pelvic tumor is even rarer. Hence this case is reported. Metrics

References

American Fertility Society. Classification of mullerian anomalies. Fertil Steril. 1988;49:952. Karine M, Laure C, Daniel G. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Orphanet J Rare Dis. 2007;2:13. Rock JA, Baramki TA, Parmley TH et al. A unilateral functioning uterine analge with mullerian duct agenesis. Int J Gynecol Obstet. 1980;18:99-101. Parikh MN. Congenital absence of vagina: MRKH syndrome. J Obstet Gynecol. 2000;50(5):128-30. Enatsu A, Hasada T, Yoshida S et al. Adenomyosis in a patient with the Rokitansky-Kuster-Hauser syndrome. Fertil Steril. 2000 Apr;73:862-3. Rein MS, Friedman AJ, Barbieri RL et al. Cytogenetic abnormalities in uterine leiomyomata. Obstet Gynecol. 1991;77:923-6. Fore SR et al. Urologic and genital anomalies in patients with congenital absence of vagina. Obstet Gynecol. 1975;46:410. Griffin JE et al. Congenital absence of the vagina. Ann Intern Med. 1976;85:224.

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