TY - JOUR
T1 - A case report of Sertoli cell tumor in a patient with testicular feminization
T2 - many dilemmas for the pathologist.
AU - Spizzo, Riccardo
AU - Intersimone, Donatella
AU - Artico, Daria
AU - Driul, Lorenza
AU - Di Loreto, Carla
AU - Beltrami, Carlo Alberto
PY - 2002/4
Y1 - 2002/4
N2 - AIMS: The aim of this case report is to present the pathological, clinical, and ethic problems due to the diagnosis of an adnexal mass in a female patient with an undetected androgen insensitivity syndrome. METHODS: We employed both commonly used pathologic techniques, such as hematoxylin-eosin staining and immunohystochemistry, both fluorescence in situ hybridization on paraffin-embedded tissue sections using probes for chromosomes X and Y. MAIN RESULTS: At pathologic evaluation, a diagnosis of Sertoli cell tumor was made. Fluorescence in situ hybridization showed an XY karyotype of tumor cells. The final diagnosis was bilateral Sertoli cell adenoma in a patient with testicular feminization syndrome. CONCLUSION: Androgen insensitivity syndrome is caused by insensitivity of end organs to androgen caused by a non-functioning receptor. The diagnosis of testicular feminization has been made as late as the ninth decade. In this case, two kinds of problem derived from the pathologist point of view: first, the demonstration of chromosomal sex to confirm the diagnosis, and second, the transfer of diagnosis to the patient and to the clinicians.
AB - AIMS: The aim of this case report is to present the pathological, clinical, and ethic problems due to the diagnosis of an adnexal mass in a female patient with an undetected androgen insensitivity syndrome. METHODS: We employed both commonly used pathologic techniques, such as hematoxylin-eosin staining and immunohystochemistry, both fluorescence in situ hybridization on paraffin-embedded tissue sections using probes for chromosomes X and Y. MAIN RESULTS: At pathologic evaluation, a diagnosis of Sertoli cell tumor was made. Fluorescence in situ hybridization showed an XY karyotype of tumor cells. The final diagnosis was bilateral Sertoli cell adenoma in a patient with testicular feminization syndrome. CONCLUSION: Androgen insensitivity syndrome is caused by insensitivity of end organs to androgen caused by a non-functioning receptor. The diagnosis of testicular feminization has been made as late as the ninth decade. In this case, two kinds of problem derived from the pathologist point of view: first, the demonstration of chromosomal sex to confirm the diagnosis, and second, the transfer of diagnosis to the patient and to the clinicians.
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M3 - Article
C2 - 19753733
AN - SCOPUS:70349566830
VL - 6
SP - 105
EP - 110
JO - Advances in clinical pathology : the official journal of Adriatic Society of Pathology
JF - Advances in clinical pathology : the official journal of Adriatic Society of Pathology
SN - 1125-5552
IS - 2
ER -