Case 1Case 1

Basic clinical dataBasic clinical data

84-year-old female with abdominal tumor84-year-old female with abdominal tumor Gynecological operation Gynecological operation

(hysterectomy-“hypoplastic uterus“) in 1942(hysterectomy-“hypoplastic uterus“) in 1942 Nullipara, probably nulligravidaNullipara, probably nulligravida

Gross view:Gross view:

Our case: 7x2,5x2,5 cmOur case: 7x2,5x2,5 cm Gray to brownish on cut surfaceGray to brownish on cut surface

More dataMore data

Tumor of the „ovary 13x11x9 cm was disclosed Tumor of the „ovary 13x11x9 cm was disclosed during operationduring operation

No structures resembling Fallopian tubeNo structures resembling Fallopian tube

Tumor was CD99++, melan A +Tumor was CD99++, melan A + CK 20 -, thyrozinase -, S100 –CK 20 -, thyrozinase -, S100 –

Diagnosis of sex-cord tumor, probably Leydig cell Diagnosis of sex-cord tumor, probably Leydig cell origin was establishedorigin was established

Your questions? OpinionsYour questions? Opinions

Lizzard Eremias spec.

Sertoli cell adenoma in patient Sertoli cell adenoma in patient with androgen insensitivity with androgen insensitivity

syndromesyndrome

Our tumor:Our tumor:

Androgen insensitivity sy (Androgen insensitivity sy (Testicular Testicular feminization syfeminization sy))

46XY, female phenotype, testicles presented in 46XY, female phenotype, testicles presented in different positions (abdominal, inguinal or „labial“ different positions (abdominal, inguinal or „labial“ position)position)

Normal secretion of androgens. Abnormal function Normal secretion of androgens. Abnormal function of androgen receptors in organsof androgen receptors in organs

Müllerian derived structures are absent (however Müllerian derived structures are absent (however Fallopian tubes are rarely present)Fallopian tubes are rarely present)

Spermiogenesis disapeared in early childhoodSpermiogenesis disapeared in early childhood Familiar trait was descriptedFamiliar trait was descripted Complete AIS-The most frequent reason for male Complete AIS-The most frequent reason for male

pseudohermafroditismpseudohermafroditism

Inkomplete AISInkomplete AIS

In partial resistance for androgenesIn partial resistance for androgenes SpeSpectrum fromctrum from slightslight „mas „mascculiniulinisationsation“ “ of of

female-type of external genitalia, through female-type of external genitalia, through virilisation, or undvirilisation, or undiiffferenferentiatedtiated extrenal extrenal genitgenitalia in patients with male-type alia in patients with male-type phphenotypenotypee (Reifenstein sy) (Reifenstein sy) tto o fullyfully masmascculinulinee individuals with individuals with infertilitinfertility ory or gynegyneccomastiomastiaa..

Androgen insensitivity sy (Androgen insensitivity sy (Testicular Testicular feminization syfeminization sy))

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

Androgen insensitivity sy (Androgen insensitivity sy (Testicular Testicular feminization syfeminization sy))

Hypothalamus haven´t androgen receptors and Hypothalamus haven´t androgen receptors and increase level of LH increase level of LH

Stimulation of Leydig cells increase level of Stimulation of Leydig cells increase level of androgens and estrogens androgens and estrogens

Androgen reseptors are non-functional Androgen reseptors are non-functional female phenotype of external genitalia and female-female phenotype of external genitalia and female-type of breast parenchymatype of breast parenchyma

Hamartomas composed of solid tubules from Hamartomas composed of solid tubules from Sertoli and Leydig cells. Eventual occurence of Sertoli and Leydig cells. Eventual occurence of malignant germ cell tumors (particularly malignant germ cell tumors (particularly seminoma)seminoma)

The most frequent types of tumors The most frequent types of tumors within AISwithin AIS

Hamartomas composed of tubules with Hamartomas composed of tubules with Sertoli cells lined by Leydig cellsSertoli cells lined by Leydig cells

Sertoli cell adenoma-typically composed of Sertoli cell adenoma-typically composed of solid uniform tubulessolid uniform tubules

Less frequently germinal tumors (app 9%)Less frequently germinal tumors (app 9%) Rarely malignant sex cord tumors Rarely malignant sex cord tumors

Sertoli Cell AdenomaSertoli Cell Adenoma

Size 0.5-14 cm, age range 17-53 yearsSize 0.5-14 cm, age range 17-53 years Grossly: solid, usually tan, dark yellowGrossly: solid, usually tan, dark yellow Tumor composed of solid elongated „tubules“Tumor composed of solid elongated „tubules“ Close relationship to „Sex cord tumor with Close relationship to „Sex cord tumor with

annulars tubules“annulars tubules“ Sertli cell adenomas are usually uniform, however Sertli cell adenomas are usually uniform, however

„sarcomatoid-like“ variants exist„sarcomatoid-like“ variants exist

Differential diagnostics:Differential diagnostics:

Sertoli cell tumorSertoli cell tumor Sex cord tumor with annulars tubulesSex cord tumor with annulars tubules

Sertoli cell tumorSertoli cell tumor

Less than 1% of testicular tumors, 15% in Less than 1% of testicular tumors, 15% in children-frequently connected with Peutz-children-frequently connected with Peutz-Jeghers syndromaJeghers syndroma

Well-circumscribed, lobular, tan to greyWell-circumscribed, lobular, tan to grey

Large cell calcifying Sertoli cell Large cell calcifying Sertoli cell tumortumor

5-44 years, relationship to different tumors 5-44 years, relationship to different tumors (cardial myxoma, pituitar adenoma, Leydig (cardial myxoma, pituitar adenoma, Leydig cell tumor,..)cell tumor,..)

Frequently multifocal and bilateralFrequently multifocal and bilateral Yellowish, tan with grossly visible Yellowish, tan with grossly visible

calcificationscalcifications Usually benign, however malignant Usually benign, however malignant

counterpart was publishedcounterpart was published

Sex cord tumor with annular tubulesSex cord tumor with annular tubules

1/3 associated with Peutz-Jeghers sy1/3 associated with Peutz-Jeghers sy Features resembling Sertoli cell tumorFeatures resembling Sertoli cell tumor Tumor associated with PJ sy usually multifocal, Tumor associated with PJ sy usually multifocal,

bilateral and small, usually benign behaviorbilateral and small, usually benign behavior Otherwise solitáry, up to 22% are malignantOtherwise solitáry, up to 22% are malignant Wolfian adnexal tumorWolfian adnexal tumor-this is not sex cord tu-solid -this is not sex cord tu-solid

or cystic, tubules composed of clear cells (formerly or cystic, tubules composed of clear cells (formerly mesonefric origin x clear cell ca). CK7, androgeny, mesonefric origin x clear cell ca). CK7, androgeny, E+P, inhibin, vimentin +E+P, inhibin, vimentin +

Differential diagnostics should Differential diagnostics should exclude also:exclude also:

Sertoli-Leydig cell tumorSertoli-Leydig cell tumor (arrhenoblastoma, (arrhenoblastoma, androblastoma):0,1% of ovarian tumors, androblastoma):0,1% of ovarian tumors, subtypes (Meyer I-III according subtypes (Meyer I-III according differentiation), pure Sertoli cell tumor, with differentiation), pure Sertoli cell tumor, with heterologous elements and retiformheterologous elements and retiform