Bilateral Sertoli Cell Tumors in a Patient with Androgen Insensitivity Syndrome

Abstract

Androgen insensitivity syndrome is the most common cause of male pseudohermaphroditism and the third most common cause of primary amenorrhea. This genetic alteration is a consequence of inherited defects on the X chromosome causing total or partial damage to the intrauterine virilization process due to functional abnormalities in the androgen receptors. The present report describes a 22-year-old patient with a female phenotype and a 46, XY karyotype, presenting with bilateral inguinal tumors. The tumors were surgically removed at the Santa Casa de Misericórdia Hospital in Vitória, Espírito Santo, Brazil. Pathology revealed bilateral testicles with Sertoli cell tumors. According to the international literature, prophylactic gonadectomy following puberty is recommended due to the progressive risk of neoplastic transformation in the residual gonads.

Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli–Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review

“…To the best of our knowledge, we are here reporting the first Russian case in English literature. Only sporadic cases were described in Australia (7 cases) [44,61], Africa (1 Morocco [34], 1 Tunisia [46], 1 Nigeria [8]), and Brazil (1 case) [23].…”

“…[6,13,55,72,73], and 60 (27%) AIS, NOS patients [25,26,29,44,[48][49][50]54,61,67,71,74,75,78,79,81,82]. Karyotype/fluorescent in situ hybridization analysis was performed in 58 CAIS [1,[8][9][10]12,[14][15][16][18][19][20][21][22][23][24]28,30,[32][33][34][36][37][38][39][40][41][42][43][45]…”

“…Information about treatment-although frequently scant-was only available for 87 patients [1,7,8,[10][11][12][13][14][15][16][19][20][21][22][23][24][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][48][49][50][51][52][53][54]56,57,59,[61][62][63][64][65][66]…”

“…When reported, the location of the gonads was pelvic (41 cases, 18%) [10,[12][13][14]21,24,32,35,37,39,42,[44][45][46]48,49,51,52,[56][57][58][59][65][66][67][68][69]71,83], 1 abdominal and 1 inguinal (3 cases, 1%) [16,28,38], 1 pelvic and 1 inguinal (7 cases, 3%) [22,30,35,50,63,71], 1 abdominal and 1 pelvic (1 case, 0.4%) [33], abdominal (9 cases, 4%) [15,26,31,53,54,62], inguinal (18 cases, 8%) [1,8,9,13,23,...…”

“…Thirty-five cases (16%) revealed SCTs [8,15,[18][19][20]23,28,37,49,50,53,54,58,69,72,73,75,81], including one sclerosing variant [8] and a "grade 2" SCT with peritoneal and lymph node metastases [53]. The patients' age range was 8-76 (mean 36.9) years.…”