|Year : 2010 | Volume
| Issue : 3 | Page : 318-320
Pure seminoma in the setting of androgen insensitivity syndrome treated with surgical resection and para-aortic radiation: A case report and review of literature
Michael Herman, Gabriella A Wernicke, Weisi Yan, Dattatreyudu Nori, Bhupesh Parashar
Stich Radiation Center, Weill Cornell Medical Center, 525E 68th street, New York, NY 10021, USA
|Date of Web Publication||29-Nov-2010|
Stich Radiation Center, Weill Cornell Medical Center, 525E 68th street, New York, NY 10021
Complete androgen insensitivity is a rare X-linked disorder characterized by a female phenotype in a chromosomally male individual. Malignant transformation of the un-descended testis is a rare phenomena compared to other inter-sex syndromes. This is a case of a 32-year-old female who was diagnosed with androgen insensitivity and presented to the emergency room with pelvic pain. Later the pelvic pain was found to be due to testicular masses, one of which was pure seminoma. We reviewed the literature emphasizing the biochemical and endocrinologic abnormalities leading to the syndrome, as well as the potential for malignant changes of the un-descended testes, diagnosis, and therapeutic management. We discuss the importance of early diagnosis and the consequence associated with misdiagnosis.
Keywords: Androgen insensitivity syndrome, radiation, seminoma
|How to cite this article:|
Herman M, Wernicke GA, Yan W, Nori D, Parashar B. Pure seminoma in the setting of androgen insensitivity syndrome treated with surgical resection and para-aortic radiation: A case report and review of literature. J Can Res Ther 2010;6:318-20
|How to cite this URL:|
Herman M, Wernicke GA, Yan W, Nori D, Parashar B. Pure seminoma in the setting of androgen insensitivity syndrome treated with surgical resection and para-aortic radiation: A case report and review of literature. J Can Res Ther [serial online] 2010 [cited 2013 Jun 18];6:318-20. Available from: http://www.cancerjournal.net/text.asp?2010/6/3/318/73337
| > Introduction|| |
Androgen insensitivity syndrome (AIS) is a rare inherited form of male pseudohermaphroditism that is characterized by male karyotype (XY) and negative sex chromatin. It is an X-linked recessive condition with a defect in androgen receptor gene that renders the fetus insensitive to circulating androgens leading to a female phenotype. The condition classically presents in adolescence as primary amenorrhea or as an inguinal mass in infancy, which is often the result of an un-descended testis. A list of case reports of seminomas in the setting of AIS is attached [Table 1]. This paper is a case presentation of a young woman with seminoma arising in testicular feminization syndrome.
| > Case Report|| |
A 32-year-old female initially presented to the emergency room with severe pelvic pain on the left. A transvaginal ultrasound was done and showed non-visualization of the uterus and both ovaries. There was a left-sided 4.3 cm adnexal structure that was seen and a CT scan of the abdomen and pelvis showed a 3.2 cm × 3.5 cm left pelvic mass. There was also a 1.9 cm × 2.1 cm mass in the right pelvis. The patient has primary amenorrhea and was diagnosed with testicular feminization 10 years prior to initial presentation. She has chromosomal analysis and karyotype of 46XY and no history of gynecological care. The patient had laparoscopic removal of the right adnexal mass and pathology of the left mass revealed it to be a left testis with seminoma. Margins could not be evaluated. Right testis did no reveal any cancer. The patient was treated with radiation therapy totaling 2550 cGy in 170 cGy per fraction using three-dimensional planning. She completed the therapy without any significant problems. Her CT 18 months later failed to demonstrate any recurrence. She continues to be followed by her oncologist where she does not endorse any pelvic pain nor does she demonstrate any symptoms related to her treatment.
| > Discussion|| |
"Testicular feminization," a term introduced by Morris in 1953 is a syndrome characterized by primary amenorrhea, a 46XY chromosomal complement [Figure 1], female phenotype, and the presence of testes rather than ovaries. Mόllerian derivatives as a rule are absent. This disorder is considered to be the most common form of male pseudohermaphroditism but occurs rarely: 1 in 25,000 to 60,000 females. It accounts for approximately 10% of cases of primary amenorrhea. The probably explanation of the syndrome is the absence of the cytosol androgen binding protein receptor that is normally present in the androgen responsive tissue.  As a result, there is no fusion of the genital folds to form the scrotum and penis and no posterior migration of the labioscrotal folds.
The risk of malignancy in AIS is considerably lower and occurs at a later age than with other intersex disorders. Typically, patients older than 30 years are at greatest risk. Dewhurst  found no malignancy in 82 patients and estimated the chance of malignancy in AIS to be approximately 5%. On the other hand, Morris and Mahesh  reported a 22% incidence of malignant gonadal tumors in 181 AIS patients. Majority of malignancies were of germ cell origin. Manuel et al combined a series of 23 cases of patients with Dewhurst series and determined that expectancy of tumors is 3.6% at age 25 and 33% at age 50.
For the patient who unfortunately exhibits malignant transformation, adjuvant therapy must be considered. Neither the histological subtype nor elevation of serum β-hCG is of prognostic significance in seminoma. If the tumor is contained within the testis then the standard adjuvant treatment is postoperative irradiation of the paraaortic with or without ipsilateral pelvic nodes.
Many authors believe because of the relatively low incidence of malignancy, one can postpone gonadectomy until after puberty. In one study conducted on 12 patients with AIS, gonadal biopsy was performed to investigate whether carcinomatous changes could be seen in children; three of 12 patients had intratubular neoplasia, which was considered premalignant.  Carcinoma in-situ was diagnosed in the testes of three of eight consecutive patients with AIS at 2 months and at 13 and 14 years.  The authors concluded that testicular biopsy is warranted as soon as the syndrome is diagnosed and that finding of in-situ seminoma should indicate immediate orchiectomy. Current practice favors surgery in early adulthood. This delayed approach allows puberty to spontaneously occur through the conversion of testosterone to oestradiol.  Routine ultrasound examination of the gonads can be used to monitor potential malignant changes. When a gonadectomy is necessary it is the preferred practice to do it laparoscopically because of the reduced morbidity and hospital stay compared to open gonadectomy. It is also important to pathologically stage the disease and assess the need for postoperative radiation therapy to the paraaortic plus/minus ipsilateral pelvic nodes.
| > Conclusion|| |
This case report describes a low-grade seminoma presenting as pelvic pain in a young patient with known complete androgen insensitivity that was successfully treated with surgery followed by para-aortic irradiation. This is a rare clinical scenario with significant health implications. There have been sporadic reports in the literature but all reviewed cases presented as a hernia,  incidental findings on laparoscopy, and routine orchiectomies for AIS patients, or unreported presentations. This is the first case to our knowledge of a patient presenting with pelvic pain. Through our case, we emphasize the association of androgen insensitivity syndrome and potential malignant changes in patients with cryptoorchidism. We recommend that post-pubertal patients with complete insensitivity should be assessed for possible orchiectomy because of the aggregate risk for testicular malignancy.
| > References|| |
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