Immunohistochemical properties of the gonad in adult patient with testicular feminization syndrome (TFS). A case report

Objective: Testicular feminization syndrome is a form of male pseudohermaphroditism clinically characterized with female phenotype. We evaluate morphologic features of male gonad in 47 years old patient with an accent on its immunohistochemical properties. Method: Our patient have had a primary amenorrhea. External genitals were female, without pubic and axillary hair. Patient complained of light low abdominal discomfort, and pelvic mass. US confirmed cystic formation of the left gonad and lack of uterus. Tumor markers, including Ca 125, Ca 19, 9, Ca 1.53, CEA, AFP, LDH i HCG were normal but testosterone was high. Cystic formation of the left gonad was surgically removed, initially specified as a left ovary, and sent to quick frozen diagnostic. After that, the other gonad was removed. Pathohistological examination and karyotyping was done. Results: The inner layer of the cystic formation of the left gonad consisted of a single layer of serous cells. The wall of the cyst contained tissue which histological looks like immature testis with small lumen less only Sertoli cells seminiferous tubules, and hyperplastic clusters of Leydig cells between them. Quick frozen section histology, without clinical data, was suggestive for well differentiated Sertoli-Leydig cell tumor of the ovary. The other gonad macroscopically and microscopically was testis that had the same appearance of the seminiferous tubules and had hyperplastic Leydig cell areas. Immunohistochemical analyzes of the gonad sample reveal that Sertoli cells showed positivity for Inhibin α, Vimentin, CD99, CKAE1/AE3 and Calretinin and Leydig cells showed positivity for Inhibin α, Vimentin, CD99, CKAE1/AE3 and Calretinin, and weak positivity for S-100, Synaptophysin i NSE. Immunoreactivity for CD99 in hyperplastic areas of Leydig cells showed the most intensive positivity. PLAP and chromogranin were negative. Ki-67 nuclear positivity was found in less than 1% of Sertoli cells and in about 1% of Leydig cells in hyperplastic areas. Karyotype was 46xy. Conclusion: Although, surgical pathologists encounter TFS rare in a clinical practice, they should be aware of this condition, especially in lack of relevant clinical data, when it could be interpreted as tumor.