Mayer‐Rokitansky-Küster-Hauser syndrome is a rare disease featured as aplasia or hypoplasia of the uterus due to the agenesis of the müllerian ducts. Few cases of fibroids associated with MRKH syndrome have been reported in the literature. Our literature search revealed only 15 case reports, including the present one, since 2000. The characteristics of the series of cases are summarized in Table 1. The ages of the patients ranged from 20 to 70 years, and most of the patients were younger than 60 years. All cases were reported outside the Unites States or Canada. Four cases had a solitary kidney. The majority of cases had either a bilateral or unilateral rudimentary horn of hypoplastic uterine remnants. Only 2 other cases, occurring in Ethiopia and Jamaica respectively (Table 2), did not identify a uterus through their various investigations.4,21
Diagnosis of MRKH syndrome is usually made in adolescence during a workup for primary amenorrhea. Imaging workup of MRKH syndrome includes US, CT, or MRI, which can identify the absent or hypoplastic uterus, cervix, and vagina.24–28 However, neither US, CT, nor MRI is sensitive to definitively exclude remnant uterine tissue with certainty. When reviewing the literature, only 4 cases using MRI identified a rudimentary uterine remnant with MRKH syndrome (Table 2). In most cases, the types of uterine malformation with MRKH syndrome were confirmed during surgery or the postoperative pathologic analysis (Table 2). Patients with a pelvic fibroid with an undiagnosed, congenitally absent uterus pose a diagnostic dilemma. This was highlighted in the case described by Fletcher et al,21 where the MRI appearance of a fibroid was mistaken for an ectopic uterus, particularly because the cystic degeneration of a fibroid can mimic the appearance of an endometrial cavity of an ectopic uterus on MRI.21 It is important that the interpreting radiologist be aware of this potential diagnostic pitfall. In our case, US was the first modality used to assess the patient’s clinical complaint. We were able to identify a fibroid-like mass in the pelvis and confirm the absence of a uterus or uterine remnant. Thus, in the context of MRKH syndrome, US could provide very useful information in patient workup. Our case highlights that, even with an apparent congenitally absent uterus, a fibroid should still be suspected in a woman with MRKH and a pelvic mass of uncertain etiology.
The etiology behind the abnormal development of the müllerian duct remains unknown.5 Originally, researchers believed that MRKH syndrome was caused by environmental factors, such as teratogenic exposure to medications during pregnancy or maternal illness.6 This nongenetic etiology hypothesis was further endorsed by a report where only 1 monozygotic twin received a diagnosis of MRKH syndrome.3,7,8 An increasing number of cases with familial occurrence of MRKH syndrome have been subsequently revealed. The familial genetic clustering study demonstrated a list of candidate gene targets potentially involved in the syndrome, such as such as pre–B-cell leukemia homeobox 1 gene (PBX1), a subset of homeotic family genes (HOX), WNT family genes, and antimüllerian hormone gene (AMH).5,9,10 These led to the hypothesis of a genetic etiology. Currently, a complete understanding of MRKH syndrome remains elusive and controversial.
Leiomyomas are benign tumors arising from the myometrial layer of the uterus and contain fibromuscular tissue made up of smooth muscle cells. Estrogen stimulates fibroid growth, whereas progesterone inhibits growth.11 Because most MRKH patients still maintain normal ovarian function with normal levels of estrogen and progesterone, fibroids in these patients undergo the same evolution as those in a normal uterus. It is conceivable that fibroids develop in patients with MRKH who have a hypoplastic uterus, because myometrial tissue could still be present to allow fibroids to arise.29 When the uterus is congenitally absent as in uterine agenesis, how a fibroid may arise is more difficult to conceive. It should be noted, however, that the proximal ends of the müllerian ducts have smooth muscle cells, which could explain the etiology of fibroids even when the uterus itself is absent. Other potential etiologies for this rare occurrence could be an increased concentration or sensitivity of estrogen receptors in remnant myometrium tissue responsible for exogenous and endogenous estrogen secreted by ovaries. Alternatively, additional somatic genetic mutations or clonal chromosomal abnormalities contributing to different levels of regulators of estrogen signaling may also occur in MRKH patients with fibroids.12 The utilization of genome-wide approaches by next-generation sequencing will be a valuable tool in investigating the genetics of MRKH syndrome and the etiology of a fibroid associated with this syndrome.
Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available, upon request, for review by the editor-in-chief of this journal.
1. Strübbe EH, Willemsen WN, Lemmens JA, et al. Mayer-Rokitansky-Küster-Hauser syndrome: distinction between two forms based on excretory urographic, sonographic, and laparoscopic findings. AJR Am J Roentgenol
2. Sultan C, Biason-Lauber A, Philibert P. Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings. Gynecol Endocrinol
3. Morcel K, Guerrier D, Watrin T, et al. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: clinical description and genetics [in French]. J Gynecol Obstet Biol Reprod (Paris)
4. Girma W, Woldeyes W. Leiomyoma arising from mullerian remnant, mimicking ovarian tumor in a woman with MRKH syndrome and unilateral renal agenesis. Ethiop J Health Sci
5. Herlin M, Højland AT, Petersen MB. Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: a case report and review of the literature. Am J Med Genet A
6. Hoffmann W, Grospietsch G, Kuhn W. Thalidomide and female genital malformations. Lancet
7. Milsom SR, Ogilvie CM, Jefferies C, et al. Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in identical twins - a case report and implications for reproduction in MRKH women. Gynecol Endocrinol
8. Regenstein AC, Berkeley AS. Discordance of müllerian agenesis in monozygotic twins. A case report. J Reprod Med
9. Ma W, Li Y, Wang M, et al. Associations of polymorphisms in WNT9B
with Mayer-Rokitansky-Küster-Hauser syndrome in Chinese Han. PLoS One
10. Pizzo A, Lagana AS, Sturlese E, et al. Mayer-Rokitansky-Kuster-Hauser syndrome: embryology, genetics and clinical and surgical treatment. ISRN Obstet Gynecol
11. Stewart EA, Laughlin-Tommaso SK, Catherino WH, et al. Uterine fibroids. Nat Rev Dis Primers
12. Kulkarni MM, Deshmukh SD, Hol K, et al. A rare case of Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas in hypoplastic uterus. J Hum Reprod Sci
13. Vidyashree PG, Muralidhar PV, Jayaram N, et al. Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas. Int J Gynaecol Obstet
14. Lamarca M, Navarro R, Ballesteros ME, et al. Leiomyomas in both uterine remnants in a woman with the Mayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril
15. Deligeoroglou E, Kontoravdis A, Makrakis E, et al. Development of leiomyomas on the uterine remnants of two women with Mayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril
16. Dandu S, Jones SE, Okeahialam MG. Rokitansky-Kuster-Hauser syndrome associated with chromosomal abnormality and fibroid
arising from the rudimentary uterine horn. J Obstet Gynaecol
. 2000; 20:98.
17. Edmonds DK. Multiple fibroids in a postmenopausal woman with Mayer Rokitansky Kuster Hauser syndrome. J Pediatr Adolesc Gynecol
18. Jadoul P, Pirard C, Squifflet J, et al. Pelvic mass in a woman with Mayer-Rokitansky-Kuster-Hauser syndrome. Fertil Steril
19. Roy KL, Lal S, Banerjee N. Large leiomyomas in Mayer-Rokitansky-Küster-Hauser syndrome. J Obstet Gynecol India
20. Lamarca M, Navarro R, Ballesteros ME, et al. Leiomyomas in both uterine remnants in a woman with the Mayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril
21. Fletcher HM, Campbell-Simpson K, Walcott D, et al. Müllerian remnant leiomyomas in women with Mayer-Rokitansky-Küster-Hauser syndrome. Obstet Gynecol
22. Salman S, Bozkurt M, Yumru AE, et al. Laparoscopic Management of Leiomyoma Developing from Rudimentary Horn in Mayer- Rokitansky-Kü[Combining Diaeresis]ster-Hauser Syndrome. J Androl Gynecol
23. Valecha M, Katdare P, Kargar U, et al. Multiple fibroids in a case of MRKH syndrome with absent uterus: Recommendations for management. Obstet Gynecol
24. Thomas E, Shetty S, Kapoor N, et al. Mayer-Rokitansky-Küster-Hauser syndrome. BMJ Case Rep
25. Govindarajan M, Rajan RS, Kalyanpur A, et al. Magnetic resonance imaging diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. J Hum Reprod Sci
26. Preibsch H, Rall K, Wietek BM, et al. Clinical value of magnetic resonance imaging in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: diagnosis of associated malformations, uterine rudiments and intrauterine endometrium. Eur Radiol
27. Bombard DS 2nd, Mousa SA. Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review. Gynecol Endocrinol
28. Hasegawa A, Igarashi H, Ohta T, et al. Three-dimensional computed tomography of pelvic masses in Mayer-Rokitansky-Küster-Hauser syndrome. Obstet Gynecol
29. Rawat KS, Buxi T, Yadav A, et al. Large leiomyoma in a woman with Mayer-Rokitansky-Kuster-Hauser syndrome. J Radiol Case Rep