J Korean Endocr Soc.  2006 Oct;21(5):414-418. 10.3803/jkes.2006.21.5.414.

A Case of Colon Cancer in Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome with Gonadal Agenesis

Affiliations
  • 1Department of Internal Medicine, Guro Hospital, Korea University School of Medicine, Korea.

Abstract

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is the second frequent cause of primary amenorrhea. There have been several reports concerning gynecologic disease in MRKH syndrome, but there has been no case about a colon cancer in a patient with this condition. A 43 years old woman, who reported primary amenorrhea with sexual infantilism, was evaluated in our department because of lower abdominal pain: she presented with a suprapubic mass. To evaluate the suprapubic abdominal mass and primary amenorrhea, abdominal MRI, colonoscopy and endocrine tests were done. She had no gynecologic organs, and she finally was diagnosed as having colon cancer with the atypical form of MRKH syndrome (bilateral gonadal agenesis 46 XX). To the best of our knowledge this is the first case concerning primary colon cancer in a patient with MRKH syndrome.

Keyword

Colon cancer; Gonadal agenesis; Primary amenorrhea; Rokitansky syndrome

MeSH Terms

Abdominal Pain
Amenorrhea
Colon*
Colonic Neoplasms*
Colonoscopy
Female
Genital Diseases, Female
Gonadal Dysgenesis*
Gonads*
Humans
Magnetic Resonance Imaging
Sexual Infantilism

Figure

  • Fig. 1 Patient's appearance. She had an undeveloped breast and no pubic hair.

  • Fig. 2 Karyotype. No Y signal could be found in any cell by FISH.

  • Fig. 3 Post-operation gross finding. A, Gross section finding of a Lt. colon cancer. The mucosal surface shows an ulcerofungating mass (dark arrow), measuring 10.5 × 5 cm across. The mass invaded to the pericolic fat and mesentery of small intestine; B, Gross section finding of a Rt. colon cancer. The mucosal surface shows a well demarcated fungating mass (dark arrow) and a large pedunculated polypoid mass (white arrow) in the ascending colon, measuring 4 × 3 cm across in the former and 4 × 3 cm across in the latter.


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