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

Institue of Pathology, Faculty of Medicine, University of Udine, Italy.
Advances in clinical pathology: the official journal of Adriatic Society of Pathology 04/2002; 6(2):105-10.
Source: PubMed

ABSTRACT 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.
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.
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.
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.