Valvi D*, Parulekar SV**, Kulkarni S***, Hira P****.
(* Assistant Professor, ** Professor and Head of Department, *** Third Year Resident, Department of Obstetrics and Gynecology ; **** Associate Professor, Department of Radiology, Seth G S Medical college and K EM hospital, Mumbai, India)
Mullerian duct anomalies are usually associated with wide range of gynaecological, urological, skeletal abnormalites, rarely associated with cardiac and anorectal anomalies. We present a rare case of complex mullerian anomalies with partial aplasia of pancreas.
Mullerian duct anomalies are common, reported in up to 3.2% of all women. Some mullerian anomalies are complex and have features of more than one class. They occur due to partial development of the müllerian ducts. Vertical fusion defect or abnormal lateral fusion of the ducts can form the arcuate uterus, bicornuate uterus and uterus didelphys. Both atresia or agenesis of cervix and uterine didelphys can coexist, It falls in category 4 according modified AFC classification of uterovaginal anomalies by Rocks and Adam classification. Failure of fusion may lead to failure to canalize, with no endometrium developing within the uterine horns. Any portion or segment of a duct may experience agenesis. Cervical agenesis or dysgenesis is relatively infrequent mullerian anomaly. Cervical agenesis or atresia results from failure of müllerian duct canalization or increased local epithelial proliferation after canalization. Uterus didelphys is the result of complete non-fusion of mullerian ducts forming complete uterine duplication with no communication with each other. Uterus didelphys may be associated with a longitudinal vaginal septum (70%), rarely with transverse vaginal septum.
A 15 year old girl presented with complaints of primary amenorrhea and pain in abdomen for 2 months. Her elder sister and mother had menarche at the age of 12 and 14 years repectively. She was averagely built and thin. Her secondary sexual characters were in Tanner stage 3. There were no skeletal abnormalities. The abdomen was soft and nontender with no evidence of any abdominal mass. The external genitalia was normal. She had a blind vagina which was around 5 cm deep. On per rectal examination, the cervix was not felt; a 3 cm soft, nontender lump was felt on right of the midline. Abdominopelvic ultrasonography showed a didelphys uterus, absence of cervix, absence of the body and tail of pancreas; kidney, ureter, bladder were normal. Abdominopelvic computerized tomography (CT) showed didelphys uterus with right uterine cavity of 6.4×3×4cm containing fluid in the endometrial cavity (figure 111.1), left horn was 2×1×1cm in size, lateral and away from right uterine cavity, without any fluid in it. The cervix was absent. The vagina was normal. There was a duplication cyst of cecum (figure 111.2), and absence of the body and tail of the pancreas (figure 111.3).
Figure 111.1. CT showing right hematometra (arrows).
Figure 111.2. CT showing a right convoluted mass containing fluid, interpreted as cecal duplication cyst (arrows).
Figure 111.3. CT showing pancreatic head (arrow).\, but absence of body and tail.
We performed a diagnostic laparoscopy followed by laparotomy on the patient. The finding were didelphys uterus with right hematosalphinx and cervical agenesis, and bilateral polycystic ovaries (figure 111.4). The enlarged, tortuous, dilated right fallopian tube had been mistaken as duplication cyst of the cecum on CT. The hematosalpinx was 22 cm long. Its end was buried under the cecum. There was no pelvic endometriosis. The right uterine horn was removed along with the hematosalpinx. The left horn (figure 111.5) was left behind because it was non communicating and non-functioning, and its removal could have compromised the blood supply of the left ovary. The patient had uneventful recovery. Histopathology showed hematometra and hematosalpinx.
Figure 111.4. Right uterine horn (U), polycystic right ovary (RO) and hematosalpinx (arrows)
Figure 111.5. Left uterine horn (LH), polycystic left ovary (LO) and left fallopian tube (LO).
Figure 111.6. Surgical specimen showing the uterine horn (U) and hematosalpinx (arrows).
The case presented had uterus bicornis (with the left horn nonfunctional and right horn with hematometra), cervical atresia, a very long hematosalpinx, and agenesis of body and tail of the pancreas. Since there was no pelvic endometriosis, which would have occurred prior to closure of the fimbrial end of the right fallopian tube, and since the tube was 22 cm long, which is far greater than any hematosalpinx of that diameter reported in the literature, we believe that the very long and tortuous tube was so due to anomalous development of the right mullerian duct. Its end being buried under posterior aspect of the cecum also supports anomalous development. Mullerian anomalies are usually associated with genitourinary abnormalities, skeletal deformities, and rarely cardiac anomalies and anorectal anomalies. Mullerian anomalies associated with aplasia of pancreas have not been reported in the literature. Partial agenesis of pancreas was incidentally detected on imaging in our case. Mutation of HNF β1 gene is associated with genitourinary abnormalities, aplasia of pancreas. It results from an embryological failure of the dorsal pancreatic bud to form the body and tail of the pancreas. Blood sugar levels were normal in our patient in spite of absent body and tail of pancreas. However she is more likely prone to early onset diabetes mellitus because most of the islet cells are located in the pancreatic body and tail. Most of the mullerian abnormalities are associated with functioning ovaries and external genitalia appropriate for age. Primary amenorrhea is the commonest presentation in cases of absence of a functioning uterus or outflow tract agenesis or obstruction. If functional uterus or uterine horn is present, cyclic pain in the abdomen due to cryptomenorrhea adds to the amenorrhea. Hysterectomy is usually recommended in such cases as associated cervical agenesis may cause complications like endometriosis, sepsis and multiple surgeries.
The diagnosis of mullerian duct anomalies is based upon the clinical examination, physical examination and imaging. Though USG is sufficient in most of the cases, CT and magnetic resonance imaging (MRI) have a leading role, especially in the diagnosis of complex anomalies. MRI has best accuracy in the evaluation of uterine anomalies and accuracies of up to 100% have been reported. Perhaps the wrong diagnosis of duplication cyst of cecum would have been corrected with the use of MRI in our case.
We thank Dr Vibhav Manjrekar for taking photographs in the article.
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Valvi D, Parulekar SV, Kulkarni S, Hira P. A Rare Case Of Complex Mullerian Anomalies With Partial Aplasia Of Pancreas. JPGO 2015. Volume 2 No. 1. Available from: http://www.jpgo.org/2015/01/a-rare-case-of-complex-mullerian.html