Transverse vaginal septum presenting as secondary amenorrhoea: a rare clinical presentation

Abstract

Transverse vaginal septum is one of the variants of Mullerian duct anomaly, caused as a result of defective fusion or recanalisation of vaginal and Mullerian organs. At an early age, it commonly presents as primary amenorrhea along with cyclical abdominal pain while later on usually it presents as dyspareunia and infertility. Our 22-year-old patient presented with secondary amenorrhea. It is very unusual for a transverse vaginal septum to cause secondary amenorrhea. MRI and clinical examination raised the suspicion of transverse vaginal septum causing secondary amenorrhea. She attained regular menstrual cycle after septum excision. The proposed theory behind it is obliteration of microperforated transverse vaginal septum because of menstrual blood and cell debris. Thus, a rare possibility of transverse vaginal septum should also be considered as a differential diagnosis of secondary amenorrhea.

Background

Transverse vaginal septum is a rare congenital anomaly, which belongs to the Mullerian duct developmental group. The incidence of transverse vaginal septum varies from 1:40 000 to 1: 84 000.¹ It was first reported by Delaunay in 1872.² The next evidence on it was documented around 70 years later in 1944 by Dannreuther.³ Histologically a septum is a fibrotic tissue with muscular and vascular components of varying thickness.⁴ The transverse vaginal septum is broadly classified into perforated and imperforated septum depending on the presence of communication.⁵ The clinical presentation, anatomic location and fertility outcome of a vaginal septum are highly variable.⁶ Woman with imperforated vaginal septum presents usually in the neonatal period or early puberty. During the neonatal period, it presents as hydrometrocolpos due to the accumulation of vaginal secretions, while in teenage she comes with primary amenorrhea with cyclical pain as a feature of obstruction in menstrual flow. Women with perforated transverse vaginal septum usually have a normal menstrual cycle and present as primary infertility, dysmenorrhoea, dyspareunia and issues with childbirth usually after starting sexual life.⁷

We present a rare case of a young unmarried woman with perforated transverse vaginal septum presenting with secondary amenorrhea occurring due to obstruction of the previously perforated vaginal septum with the regular menstrual cycle.

Case presentation

A 22-year-old unmarried, sexually inactive woman presented to the gynaecology department with the reports of infrequent cycles and scanty flow for 1 year, followed by amenorrhea for 6 months. She got her menarche at 15 years of age and her previous menstrual cycles were at regular intervals with the scanty flow not associated with dysmenorrhea. Her secondary sexual characters were well developed with a Tanner stage 4 for breast development and Tanner stage 4 for pubic hair development. Her pervaginum examination was abandoned in view of an intact hymen. On per-rectal examination, a smooth mass of firm consistency was felt which appeared to be arising from the cervix. Ultrasound examination of the patient was suggestive of a hypoechoic lesion at the cervix with fluid collection. A provisional diagnosis of obstructing cervical fibroid was made.

Investigations

MRI pelvis was done for further evaluation which was suggestive of the normal-sized uterus with endometrial thickness of 5 mm. The cervical canal was grossly distended and filled with T1 hyperintense and T2 heterogeneously hyperintense content suggestive of haematocolpos. Linear thin T2 hypointense transverse septum-like structure was also seen in the lower part of the dilated cervix giving the possibility of the high vaginal septum or low cervical septum leading to haematocolpos (figure 1). To confirm this unusual presentation of the transverse vaginal septum, a perspeculum examination was done with the patient’s consent and it revealed a blind vaginal pouch of around 6 cm. There was a 5 cm broad bulge at the cervicovaginal junction with a small pinpoint area on the left lateral edge probably representing the site of secondary closure (figure 2A).

Figure 1.

(A and B) Axial T1-weighted and T2-weighted MRIs showing grossly distended cervical canal (arrows) filled with T1 hyperintense and T2 heterogeneously hyperintense contents consistent with haematocolpos. (C) Sagittal T2-weighted MRIs depicting septum (dashed arrow) at the cervicovaginal junction.

Figure 2.

Perspeculum examination (A) depicting a blind vaginal pouch of around 6 cm with a bulge of 5 cm width at the cervicovaginal junction (white arrow) and small pinpoint area (black arrow) at the edge. Laparoscopic view (B) showing uterus along with a 5×5 cm bulge (dashed arrow) distending the fornices. Bilateral fallopian tubes and ovaries were normal.

Differential diagnosis

Thus, the diagnosis of cervical fibroid was excluded based on the MRI finding. The possibility of cervical stenosis due to the insertion of corrosive substances, harmful vaginal practices, vaginal irradiations during radiotherapy and secondary to infection was ruled out from history and per-speculum examination. A provisional diagnosis of the transverse vaginal septum was made and surgery for the same was planned.

Treatment

The patient was explained about possible methods of treatment and their prognosis. After taking consent diagnostic laparoscopy followed by transverse vaginal septum resection under general anaesthesia was done. On laparoscopy, a 5×5 cm bulge distending the fornices was seen distal to the otherwise normal uterus. Fallopian tubes and bilateral ovaries were normal (figure 2B). The septum was excised vertically from the vaginal route and approximately 150 mL of old altered blood was drained. Cervix was visualised clearly after resection and 6 cm of uterocervical length was found. The cut margins of septum were sutured with vaginal walls using intermittent slow-absorbable polyglactin sutures. A vaginal mould coated with oestrogen cream was placed in the vagina. The patient was discharged on the second postoperative day after the removal of vaginal mould.

Outcome and follow-up

As she was sexually inactive, the use of small size vaginal dilators was advised for the initial 6 weeks. She restored her regular menstrual cycle and flow. On follow-up examination, the healing and patency of the vagina were ensured. She was then advised medium-sized vaginal dilator with no recurrence of symptoms until 6 months follow-up.

Discussion

The embryonic origin of the vagina is still debatable. The upper part of the vagina originates from the Mullerian system while the lower half is originated from sinovaginal bulbs of the urogenital sinus. Koff proposed aetiology of the transverse vaginal septum as a failure of fusion of the two, after examining human embryos at various stages.⁸ Other theories being the failure of canalisation of vaginal plates, abnormal proliferation of mesoderm or combination of any of these. The histopathology of septum supports the theory of incomplete fusion, as the cranial surface is lined by the columnar epithelium of Mullerian origin while the caudal surface is lined by the squamous epithelium of urogenital sinus. Another theory of failed canalisation of the vaginal plate is supported by the presence of transverse vaginal septum at various levels.⁹

The largest study on transverse vaginal septum over 42 years was conducted by Lodi, in which 42 patients were diagnosed with the transverse vaginal septum.⁵ In his study, he found that if classified according to the location of the septum, 45% of women had high vaginal septum, 40% had a septum in the mid vaginal region and only 14% had a low vaginal septum. He also found that out of 42 patients, 39 had perforated or incomplete septum while only 3 had an imperforated or complete septum. Other literature also supported the same showing 10% imperforated and 90% perforated vaginal septum. Usually, the perforated septum is asymptomatic or presents as dysmenorrhea, infertility and as an issue in childbirth. A review of literature done by Nicholas et al showed that perforated vaginal septum was found in 18 patients till 2008, out of which 3 were diagnosed incidentally, 4 presented with infertility, 4 were diagnosed with the delivery issue, 2 had irregular periods and 4 had dyspareunia.⁹ The average documented vaginal length was 5 cm. Imaging modalities like ultrasound and MRI have limitations to differentiate between vaginal atresia/aplasia/vaginal septum. They remain undiagnosed especially in cases of the perforated vaginal septum when there are no haematocolpos.⁹

The perforated septum has a small hole called fenestration through which menstrual flow occurs. These women have longer cycles than normal (4–7 days) because it takes longer time for blood to come out of the vagina. The absence of this fenestration in imperforated variant results in blood collection above this septum which presents as primary amenorrhoea, cryptomenorrhoea and cyclical pelvic pain during teenage.⁴ Our patient presented with secondary amenorrhea. This was due to the progressive closure of perforated septum. A similar case was reported by Nicholas et al in their study. They explained the possibility of secondary occlusion due to septal scarring resulting from retained blood and tissues which remains quite a rare entity.⁹

The European Society of Human Reproduction and Embryology/European Society for Gynaecological Endoscopy consensus in 2013 has classified transverse vaginal septum as the V3 subgroup among the Mullerian duct anomalies.¹⁰ Our case had no uterine or cervical anomaly, so it was classified as U0C0V3 (Uterus-Normal, Cervix-Normal, Vagina-Transverse vaginal septum).

The treatment options suggested by previous studies for transverse septum include excision or incision of the septum with or without vaginal dilatation. For thick vaginal septum, Z plasty and Y plasty are the treatment of choice.⁹ At times the patient may also need grafts. Complication rate depends on site and thickness of vaginal septum.⁷ The higher and thicker septum may need both abdominopelvic approaches and has more complications. Many studies have supported the role of vaginal dilators postsurgically in unmarried woman or early resumption of coitus in sexually active after healing. In our case, we had a successful outcome with vaginal plasty followed by the usage of vaginal dilators.

In conclusion, we got a patient with secondary amenorrhea suspected to be due to some cervical lesion. The detailed evaluation suggested it to be secondary occlusion of a congenitally perforated transverse vaginal septum, the same was successfully managed.

Learning points.

• The transverse vaginal septum can also present as secondary amenorrhea.

• The microperforated transverse vaginal septum can gradually become complete and so can make its diagnosis difficult especially in women who have attained menarche before complete closure of septum/microperforation.

• Patients with well-developed secondary sexual characters, a well-developed but blind vaginal cavity and secondary amenorrhoea must also be worked on lines of transverse vaginal septum.

• The proposed theory is occlusion of the small hole of previously microperforated septum due to blood and tissue debris.

• Detailed MRI evaluation of genital tract anomalies is necessary for better diagnosis and management.