Abstract
Cervical agenesis or dysgenesis is a rare Mullerian anomaly that is usually associated with vaginal aplasia. A literature review revealed reports of 83 cases including ours, of which 57 (68.6%) presented with obstruction of the external OS, 11 (13.2%) had the cervix replaced by a fibrous cord and 5 (6.02%) had a fragmented cervix. A total of 24 (28.9%) were managed by core and drilling technique (CDT), 16(19.2%) patients underwent uterovaginal anastomosis (UVA), 7(8.4%) underwent total abdominal hysterectomy preserving the ovaries and 5 (6.02%) were managed by cervical reconstruction. Unfortunately, 31 failed to return after their clinical and radiological diagnosis was confirmed. Early diagnosis and treatment are necessary to avoid long-term complications.
Background
Cervical agenesis or dysgenesis is seen in 1 in 80,000–100,000 live births. 1 The usual presentation is primary amenorrhoea with cyclic abdominal pain. There may have been previous and multiple attempts of intervention before referral. Initial diagnosis of cervical atresia on radiological investigation may actually prove to be a stenosed cervix which can be successfully managed by inserting an endotracheal tube as a stent. We review similar cases to discuss the various management options.
Materials and methods
A literature review (Table 1) was performed through a Medline search for ‘cervical dysgenesis’ and various management options and follow-up are discussed.
Review of cases presenting with cervical dysgenesis.
References are taken from Jacob and Griffin.
CDT: core and drilling technique; NR: not reported; TAH: total abdominal hysterectomy; TU-TAH: total unilateral abdominal hysterectomy; UVA: uterovaginal anastomosis.
Rock et al. 2 differentiated cervical dysgenesis into fragmentation, fibrous cord formation and obstruction. Management options are tabulated.
We present a case of a 15-year-old girl with severe pelvic pain for 2 months duration. Menarche had not yet been attained. There was no associated urinary and bowel complaints. An magnetic resonance and imaging (MRI) scan revealed a small collection in the uterine cavity with the cervix appearing to be aplastic but a normal vagina present (Figure 1). On general examination, secondary sexual development corresponded to her age. After informed consent from her guardians, examination under anaesthesia revealed a normal length of the vagina with no cervical protrusion into the vagina, though a firm structure was felt at its apex suggestive of the cervix. Two round structures were felt on deep palpation in both the lateral fornices. Laparoscopy was performed but owing to clinical instability as a result of oxygen desaturation, laparotomy was carried out. A small rudimentary horn was found on the left side of the uterus with no fallopian tube attached and a distended horn on its right side together with juvenile cystic adenomyoma. The cervix was thin and cord like and attenuated but with no protrusion into the vagina (Figure 2). The utero-vesical pouch was opened and the bladder was pushed over the atretic cervix. A small transverse incision was made over the isthmus, and dark altered blood was obtained and this permitted gradual gentle cervical dilatation (Figure 3) using a cuffed endotracheal tube. The dilator at its vaginal end was incised to render it patent (Figure 4). It was inserted through lower end of the vagina and the cuffed end was placed in the uterus (Figure 5). The uterine incision was closed and reconstruction of the anterior wall of cervix was carried out. The adenomyomata and the rudimentary horn were excised (Figure 6). The post-operative period course was uneventful. At follow-up after her next menstrual cycle, the patient was found to be menstruating normally and was totally asymptomatic. The endotracheal tube was removed after three months.
MRI showing hematometra with cervix visualised in upper part.
Operative picture showing left sided rudimentary horn with right sided uterus with adenomyoma.
Dilatation of fibrous cord like cervix.
Opening of external os from vaginal end.
Insertion of endotracheal tube in cervix.
Excision of adenomyoma.
Discussion
Development of the female genital tract involves three phases of development of Mullerian duct – organogenesis, fusion (lateral and vertical) and septal resorption. The cervix is formed as a condensation of stromal cells at a specific site around the fused Mullerian duct and its differentiation is a complex process involving mesodermal and endodermal tissue at around 20 weeks of intrauterine life.
Classical types of cervical dysgenesis are cervical aplasia lacking a uterine cervix which is subdivided into (a) cervical body consisting of fibrous band, (b) an intact cervical body with obstruction of the cervical OS (c) stricture of the midportion of the cervix with a bulbous tip and no identifiable cervical lumen and (d) fragmentation of the cervix. 2 These cervical anomalies are classified as C0 (normal cervix), C1(septate cervix), C2 (double normal cervix), C3 (unilateral cervical aplasia) and C4(cervical aplasia) according to the latest ESHRE/ESGE. 28 Our patient had a C4 type anomaly.
The primary symptoms are amenorrhoea and cyclic abdominal pain owing to haematometra and haematocolpos. Sometimes, there may be signs and symptoms of endometriosis, chocolate cyst and ovarian torsion as a result of retrograde menstruation.
Diagnosis is based on the combination of clinical findings and imaging techniques such as sonography and MRI the latter being the gold standard.
Management usually depends on the presenting symptoms, the type of anomaly and level of obstruction. The usual surgical procedures are core and drilling technique (CDT), uterovaginal anastomosis (UVA) and hysterectomy for type 2 cases. 29 The aim of surgery is the restoration of normal anatomical integrity, preservation of functional cervical canal and fertility. Hysterectomy is, however, the usual remaining option for type 1 cervical aplasia or a failure of a conservative approach. It is highly recommended to keep a stent for 4–6 weeks to prevent closure of the newly surgically formed uterovaginal tract. Reoperations due to stenosis of a newly formed tract may result in complications leading to inevitable hysterectomy. Early diagnosis is necessary to avoid long-term complications.
Footnotes
Author’s contribution
Vani Malhotra operated the case and played a crucial role in writing the manuscript. Smiti Nanda edited the manuscript. Meenakshi Chauhan edited the manuscript. Ritu Bhardwaj helped with collection of data. Aastha Chauhan helped with editing the photographs.
Declaration of conflicting interests
The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding
The author(s) received no financial support for the research, authorship, and/or publication of this article.
