Juvenile cystic adenomyoma, a rare diagnostic challenge: Case Reports and literature review

A 16-year-old nulligravid woman was referred to our clinic for the management of a cystic uterine lesion associated with acute worsening of chronic dysmenorrhea. She started menarche at the age of 14 years. Her periods were always regular at an interval of 28 days and associated with severe dysmenorrhea. She was prescribed oral contraceptive pills for dysmenorrhea, with partial relief. Before her referral to our clinic, she presented to the emergency room twice for worsening of pain in the lower quadrant. She underwent CT and ultrasound imaging, which revealed a cyst in the right lateral myometrium, consistent in its echotexture with that of an endometrioma. A CT of the abdomen and pelvis revealed a 4.7 × 3.8-cm subserosal cystic mass on the right side of the uterus, which appeared to be discrete from the endometrium. Pelvic ultrasonography was performed on the same day, which revealed a cystic lesion measuring 5.1 × 3.6 × 4.8 cm, with an echotexture consistent with that of an endometrioma, either within the cornua or in the fallopian tube; however, the exact location was difficult to identify using ultrasound. The patient underwent diagnostic laparoscopy, which confirmed a bulge arising from the right uterine cornua and the presence of a cystic mass, indicative of a Müllerian anomaly. Appendectomy was concurrently performed because of a rigid and hyperemic appearance of the appendix, and minimal endometriosis was fulgurated. She was referred to us for further care and worsening of the pelvic pain after she underwent the abovementioned laparoscopy. We performed laparoscopic excision of the uterine cyst following a procedure similar to that used for case 1. The intraoperative findings ( Fig. 3 ) were a 5-cm bulging mass arising from the right cornual region and unremarkable bilateral adnexae. The final pathology report confirmed JCA. The patient experienced proper recovery and pain relief immediately after the laparoscopic resection of the adenomyoma. During follow-up ultrasonography, a cystic area in the left cornual region was noted, concerning to be a remnant of JCA. She now requires continuous oral contraceptive pills for the pelvic pain and suppression of endometriosis. Figure 3 Intraoperative appearance of a cystic adenomyoma located on the right side of the uterus. The bilateral adnexae are unremarkable. Intraoperative appearance of a cystic adenomyoma located on the right side of the uterus. The bilateral adnexae are unremarkable. Table 1 summarizes a selected review of the literature related to JCA. In a report by Takeuchi et al. ( 5 ), the timing of the onset of severe dysmenorrhea was a mean of 6.6 years after menarche, ranging from 1 to 13 years later. These lesions are commonly 3–4 cm in size, although it may vary from 2 to 8 cm. The most common location is the lateral uterine wall under the round ligament insertion, without interruption of the fallopian tubes, and the uterine cavity is typically unaffected. Coexisting diffuse adenomyosis was identified using MRI in 4 cases of JCA. Five patients in the case series by Takeuchi et al. ( 5 ) had peritoneal endometriosis, similar to our patients, and 1 patient had ovarian endometrioma. The effect of the diagnosis of JCA and surgical resection of these lesions on future reproductive potential has not been well described. Takeuchi et al. ( 5 ) reported that 2 of 3 patients who desired pregnancy had successful live births after resection. Table 1 Review of literature related to juvenile cystic adenomyoma. Author, year No. of patients Age at the time of intervention b Size of lesion (mm) Laterality Coexisting adenomyosis Imaging Medical management Surgery Outcome Tamura et al., 1996 ( 12 ) 1 4 y after menarche 30 NA No US MRI NA LT Complete Potter and Schenken, 1998 ( 13 ) 1 15 y 40 NA Yes US HSG Incomplete LT Complete Fisseha et al., 2006 ( 14 ) 1 13 y 30 Left No US MRI Good Not attempted Stable on meds Takeda et al., 2007 ( 6 ) 2 At menarche 3026 NA No Yes US MRI HSG Incomplete LPS Complete Dogan et al., 2008 ( 15 ) 1 19 y 35 Left NA US MRI LT Complete Ho et al., 2008 ( 16 ) 1 15 y NA (large) Right No US CT MRI NA LT NA Ball et al., 2009 ( 17 ) 1 4 y after menarche 20 No US Incomplete LPS Complete Takeuchi et al., 2010 ( 5 ) 9 25.2 y a 31 a NA Yes, in all US MRI HSG Incomplete LPS Complete Akar et al., 2010 ( 18 ) 1 15 y 47 Right NA USG CT Incomplete RAL NA Chun et al., 2011 ( 19 ) 1 19 y 30 Left No MRI Incomplete LPS Complete Kriplani et al., 2011 ( 20 ) 4 20 y a NA NA NA NA Incomplete LPS Complete Jain et al., 2012 ( 21 ) 2 19 y 22 y NA Left Right No US MRI Incomplete LPS Complete Branquinho et al., 2012 ( 22 ) 1 17 y 33 mm Right No US MRI Complete None Complete Cucinella et al., 2013 ( 23 ) 1 25 y 45 NA NA US MRI Incomplete LPS Complete Kumakiri et al., 2013 ( 24 ) 1 20 y 30 NA NA US NA LPS Complete Pontrelli et al., 2015 ( 25 ) 1 27 y 80 Posterior wall NA US MRI HSC Incomplete HSC Complete Dadhwal et al., 2017 ( 26 ) 2 23 y 16 y 40 a Right Left NA US MRI Incomplete LT, LPS Complete Peters et al., 2018 ( 10 ) 1 19 y 30 Left NA US MRI Not attempted RAL NA Protopapas et al., 2020 ( 27 ) 1 14 y 38 Left NA MRI Not attempted LPS Complete Wilcox et al., 2020 ( 28 ) 2 18 y, 18 y 23, 36 Left No 3D US MRI LNG IUD CHC HSC LPS Complete Kiyak et al., 2020 ( 8 ) 1 27 y 42 Right No US None LPS Complete US = ultrasonography; CT = computed tomography; MRI = magnetic resonance imaging; HSG = hysterosalpingogram; HSC = hysteroscopy; NA = information not available; LT = laparotomy; LPS = laparoscopy; RAL = robotic-assisted laparoscopy. LNG IUD = levonorgestrol intrauterine device; CHC = combined hormonal contraceptive. a Values are represented as means. b Some case studies did not mention the age at which the patient received an intervention but mentioned the age at the time of menarche. Review of literature related to juvenile cystic adenomyoma. US = ultrasonography; CT = computed tomography; MRI = magnetic resonance imaging; HSG = hysterosalpingogram; HSC = hysteroscopy; NA = information not available; LT = laparotomy; LPS = laparoscopy; RAL = robotic-assisted laparoscopy. LNG IUD = levonorgestrol intrauterine device; CHC = combined hormonal contraceptive. Values are represented as means. Some case studies did not mention the age at which the patient received an intervention but mentioned the age at the time of menarche.

A retrospective chart review was performed for both the patients. To identify the previously published cases of JCA, a literature review, with PubMed and Google Scholar, was performed using various combinations of the following search terms: juvenile cystic adenomyoma, juvenile adenomyotic cysts, cystic myometrial lesions, accessory uterine cavity masses (ACUM), adenomyosis, Müllerian anomalies, noncommunicating uterine horn, and cavitated rudimentary uterine horn. Case reports of JCA were included if they met the following criteria: if they met the abovementioned criteria used to include a case as JCA, as described by Takeuchi et al. ( 5 ); and adolescent girls and women below 30 years who presented with early-onset severe dysmenorrhea and pelvic pain. We excluded case reports of women who were ≥30 years of age and those who had a prior history of myomectomy or other uterine procedures. Based on the initial list, the reference sections were reviewed, and similar additional articles were identified and included in the review. All cases reported as JCA that met the abovementioned criteria through November 2020 and were published in the English language were included. All cases reported were histopathologically confirmed JCA that presented with severe primary dysmenorrhea and a large, isolated cystic myometrial lesion revealed by pelvic imaging studies. Consent for this manuscript was obtained from both the patients.

Based on our experience and the literature review of JCA cases, we suggest that pelvic ultrasonography for young women with severe dysmenorrhea, performed transvaginally when appropriate and transabdominally in other patients, be considered the first diagnostic modality. When an initial imaging result does not lead to a clear diagnosis, MRI should be performed. Diagnostic laparoscopy should be offered when the diagnosis remains unclear after MRI or when dysmenorrhea is unresponsive to medical management. This also provides an opportunity for surgical management with mass resection, which might effectively help relieve symptoms.

Large myometrial cysts in young women are very infrequent. The most common presenting symptoms are severe dysmenorrhea and pelvic pain, with inadequate relief when typical medical management strategies such as nonsteroidal anti-inflammatory drugs and combined hormonal contraceptives meant for ovulation suppression are used. The etiology of juvenile cystic adenomyosis is not clear, although various investigators have proposed different theories in an attempt to identify the origin of these rare uterine abnormalities. Based on early-onset severe dysmenorrhea soon after menarche and the typical uterus-like organization of JCA, Takeda et al. ( 6 ) suggested that JCA results from developmental defects of the Müllerian ducts. Although JCA is associated with a normal uterine cavity, unlike other Müllerian anomalies, Acién et al. ( 7 ) hypothesized that cavitated uterine lesions in premenopausal women represent a previously unrecognized Müllerian anomaly that results from gubernaculum dysfunction, leading to duplication or persistence of paramesonephric tissue. In contrast, Takeuchi et al. ( 5 ) consider it a cystic variant of adenomyosis. These 2 entities have been considered to have the same underlying process ( 7 ) and similar clinical presentation or different processes but with the main clinical difference being the presence of dense adenomyosis in JCA ( 8 ). Although ultrasound remains the most common imaging modality for evaluation, MRI has also been shown to be useful in the evaluation of these cystic structures when they are not clearly defined using ultrasound. Using 3-dimensional transvaginal ultrasonography, a cystic adenomyoma can be visualized as a round cystic mass filled with hypoechoic content, separate from the normal uterine cavity, as seen in our first case, typically in the cornual region. On MRI images, cystic adenomyosis appears to be a well-circumscribed cystic lesion filled with hemorrhagic fluid in different stages of organization within the myometrium ( 5 ). Menstrual suppression using continuous oral contraceptive pills, gonadotropin-releasing hormone analogs, and nonsteroidal anti-inflammatory drugs may provide temporary and partial pain relief in JCA ( 5 , 9 ), but laparoscopic resection remains the most effective treatment ( 5 ). The recurrence of JCA has not been reported yet. Majority of the reported cases successfully completed the resections of these cystic adenomyosis lesions laparoscopically, with complete resolution of pelvic pain. Peter et al. ( 10 ) published a narrated video describing a fertility-sparing, minimally invasive, surgical technique to enucleate and resect cystic adenomyosis lesions. Magnetic resonance imaging findings may prove useful in selecting the right approach to locate and enucleate the lesion. Efforts to unfold the etiology of juvenile cystic adenomyosis can continue with better awareness of the condition and imaging modalities. Based on our comprehensive review of previous JCA cases ( Table 1 ), significant delay in diagnosis and treatment is evident. A Müllerian anomaly, a degenerating leiomyoma, and an ovarian endometrioma adjacent to the uterus are also part of a reasonable differential diagnosis of myometrial cystic lesions ( 11 ). However, more cases need to be investigated to develop a uniform effective protocol for diagnosing and treating a rare disorder like JCA.