A case report of Sertoli cell tumor in a patient with testicular feminization: many dilemmas for the pathologist.
OBJECTIVE
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.


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.


CONCLUSIONS
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.
Spizzo
Riccardo
R
Institue of Pathology, Faculty of Medicine, University of Udine, Italy.
Intersimone
Donatella
D
Artico
Daria
D
Driul
Lorenza
L
Di Loreto
Carla
C
Beltrami
Carlo Alberto
CA
D000368:Aged; D013734:Androgen-Insensitivity Syndrome / Q000473:pathology* / Q000601:surgery; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005260:Female; D005262:Feminization; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009852:Omentum / Q000601:surgery; D010051:Ovarian Neoplasms / Q000473:pathology* / Q000601:surgery; D010052:Ovariectomy; D012707:Sertoli Cell Tumor / Q000473:pathology* / Q000601:surgery; D016896:Treatment Outcome