1. Case 1

2. Basic clinical data 84-year-old female with abdominal tumor
Gynecological operation (hysterectomy-“hypoplastic uterus“) in 1942
Nullipara, probably nulligravida

4. Gross view:
Our case: 7x2,5x2,5 cm
Gray to brownish on cut surface

6. More data
Tumor of the „ovary 13x11x9 cm was disclosed during operation
No structures resembling Fallopian tube
Tumor was CD99++, melan A +
CK 20 -, thyrozinase -, S100 –
Diagnosis of sex-cord tumor, probably Leydig cell origin was established

8. Your questions? Opinions

9. Lizzard Eremias spec.

10. Sertoli cell adenoma in patient with androgen insensitivity syndrome
Our tumor:
Sertoli cell adenoma in patient with androgen insensitivity syndrome

11. Androgen insensitivity sy (Testicular feminization sy)
46XY, female phenotype, testicles presented in different positions (abdominal, inguinal or „labial“ position)
Normal secretion of androgens. Abnormal function of androgen receptors in organs
Müllerian derived structures are absent (however Fallopian tubes are rarely present)
Spermiogenesis disapeared in early childhood
Familiar trait was descripted
Complete AIS-The most frequent reason for male pseudohermafroditism

12. Inkomplete AIS In partial resistance for androgenes
Spectrum from slight „masculinisation“ of female-type of external genitalia, through virilisation, or undifferentiated extrenal genitalia in patients with male-type phenotype (Reifenstein sy) to fully masculine individuals with infertility or gynecomastia.

13. Androgen insensitivity sy (Testicular feminization sy)
The most common form, complete androgen insensitivity syndrome (testicular feminization), results from mutations in the gene for the androgen receptor.This gene is located at Xq11-Xq12, and hence this disorder is inherited as an X-linked recessive.

14. Androgen insensitivity sy (Testicular feminization sy)
Hypothalamus haven´t androgen receptors and increase level of LH
Stimulation of Leydig cells increase level of androgens and estrogens
Androgen reseptors are non-functional female phenotype of external genitalia and female-type of breast parenchyma
Hamartomas composed of solid tubules from Sertoli and Leydig cells. Eventual occurence of malignant germ cell tumors (particularly seminoma)

15. The most frequent types of tumors within AIS
Hamartomas composed of tubules with Sertoli cells lined by Leydig cells
Sertoli cell adenoma-typically composed of solid uniform tubules
Less frequently germinal tumors (app 9%)
Rarely malignant sex cord tumors

16. Sertoli Cell Adenoma Size 0.5-14 cm, age range 17-53 years
Grossly: solid, usually tan, dark yellow
Tumor composed of solid elongated „tubules“
Close relationship to „Sex cord tumor with annulars tubules“
Sertli cell adenomas are usually uniform, however „sarcomatoid-like“ variants exist

17. Differential diagnostics:
Sertoli cell tumor
Sex cord tumor with annulars tubules

18. Sertoli cell tumor
Less than 1% of testicular tumors, 15% in children-frequently connected with Peutz-Jeghers syndroma
Well-circumscribed, lobular, tan to grey

19. Large cell calcifying Sertoli cell tumor
5-44 years, relationship to different tumors (cardial myxoma, pituitar adenoma, Leydig cell tumor,..)
Frequently multifocal and bilateral
Yellowish, tan with grossly visible calcifications
Usually benign, however malignant counterpart was published

20. Sex cord tumor with annular tubules
1/3 associated with Peutz-Jeghers sy
Features resembling Sertoli cell tumor
Tumor associated with PJ sy usually multifocal, bilateral and small, usually benign behavior
Otherwise solitáry, up to 22% are malignant
Wolfian adnexal tumor-this is not sex cord tu-solid or cystic, tubules composed of clear cells (formerly mesonefric origin x clear cell ca). CK7, androgeny, E+P, inhibin, vimentin +

21. Differential diagnostics should exclude also:
Sertoli-Leydig cell tumor (arrhenoblastoma, androblastoma):0,1% of ovarian tumors, subtypes (Meyer I-III according differentiation), pure Sertoli cell tumor, with heterologous elements and retiform