Müllerian duct anomalies (MDAs) encompass a group of anatomical malformations resulting from defective development, fusion, migration, or resorption of Müllerian (paramesonephric) ducts during embryonic life. Herein, we report the first case of an exceedingly uncommon MDA (bilateral ectopic hypoplastic uteri attached to bilateral pelvic sidewalls) in a 21-year-old woman who was referred to our tertiary care center as a case of primary amenorrhea for workup and further management.
Müllerian duct anomalies (MDAs) include a collection of anatomical malformations resulting from defective development, fusion, migration, or resorption of Müllerian (paramesonephric) ducts during embryonic life [
A 21-year-old Saudi lady, married for two months, was referred to our tertiary care center as a case of primary amenorrhea for work up and further management. Patient denied any history of oral contraceptive pill intake, strenuous exercise, cyclical abdominal pain, genitourinary, or gastrointestinal symptoms. Family history of similar clinical condition was negative. Family history of obstetric, gynecological, and endocrinological problems was negative too. Past medical history and past surgical history were unremarkable.
On physical examination, height and weight of patient were 150 cm and 58 kg, respectively. Body mass index (BMI) was 25.8. Patient had normal hair distribution, normal breast development, and normally appearing external genitalia. Bimanual examination showed a severely hypoplastic vagina of 1 cm in length. Moreover, cervix and uterus could not be palpated.
Laboratory investigations including complete blood count, hepatic, renal, bone, and full hormonal profiles (including LH, FSH, estrogen, and testosterone) were within normal ranges.
Magnetic resonance imaging (MRI) showed severe hypoplasia of the lower one-third of vagina (1 cm in length) and agenesis of the upper two-thirds of vagina and cervix. Uterus was not identified in the expected location. There were two masses seen at both pelvic sidewalls demonstrating enhancement patterns suggestive of possible uterine tissue. The right and left masses measured
Coronal magnetic resonance imaging (MRI) scan showing two masses seen at bilateral pelvic sidewalls demonstrating enhancement patterns suggestive of possible uterine tissue (arrows). The right and left masses measured
Genetic karyotyping was done and showed a normal female karyotype (46, XX).
Exploratory laparoscopy was done and showed bilateral ectopic rudimentary (hypoplastic) uteri measuring approximately
Pelvic exploratory laparoscopy showing bilateral ectopic rudimentary (hypoplastic) uteri measuring approximately
The laparoscopic findings were explained to patient. The patient was informed about impossibility of conception (getting pregnant) in the current settings. Moreover, patient was offered the option of cosmetic vaginoplasty for the severe hypoplasia of the lower one-third of vagina and agenesis of the upper two-thirds of vagina. Patient accepted the vaginoplasty procedure and it was done successfully without complications.
Müllerian duct anomalies (MDAs) encompass a heterogeneous group of anatomical malformations arising from defective process in one or more of the following phases of embryonic development. These phases include (1) abnormal organogenesis, (2) defective vertical/lateral migration and fusion, and (3) septal resorption failure of Müllerian ducts during embryogenesis [
Exact incidence and prevalence rates of MDAs are largely difficult to estimate. This can be broadly attributed to a variety of reasons. Such reasons include (1) majority of patients are asymptomatic, (2) evaluation of highly diverse patient populations, (3) utilization of quite nonstandardized classification schemes, and (4) wide discrepancy in use of diagnostic modalities with subsequent attainment of variably diverse diagnostic results [
Clinical diagnosis of MDAs is most often delayed or missed as vast majority of patients are asymptomatic [
Imaging plays vital roles in identifying and categorizing the MDAs, so that the most appropriate management is offered [
HSG has been traditionally the diagnostic imaging modality of choice used to assess the cervical canal, uterine cavity, and fallopian tubes. However, its use is greatly limited in patients who are still virgins [
Conventional 2D ultrasonography facilitates a much more thorough analysis of the cervical canal, endometrium, and uterine cavity. Its specificity ranges from 85% to 92% [
However, at the present time, MRI remains the gold standard imaging modality of preference for diagnosing MDAs [
The most commonly used classification system of MDAs is that established by the American Society of Reproductive Medicine (ASRM) based on anatomical manifestations [
In our case, as revealed by MRI, patient had bilateral ectopic hypoplastic uteri (attached to the pelvic sidewalls) with bilateral normal ovaries and fallopian tubes. Furthermore, patient had agenesis of cervix and upper two-thirds of vagina in addition to severe hypoplasia of lower one-third of vagina (approximately 1 cm in length). The bilateral ectopic locations of hypoplastic uteri attached to the pelvic sidewalls have never been reported before in the literature or described in the ASRM classification system of MDAs. Therefore, it was difficult to place our case anomaly findings into one of the ASRM classification system categories. Moreover, we, possibly, propose incorporating our atypical MDA findings as a new category into the ASRM classification system of MDAs.
It is very vital to accurately classify MDAs in order to undertake the most appropriate management plan [
Renal malformations happen in nearly 30% of patients with MDAs and renal agenesis is the most frequently encountered malformation (67%) [
The authors declare that there is no conflict of interests regarding the publication of this paper.
Ahmed Nazer and Ahmed Abu-Zaid contributed equally to this paper.