Sertoli-Leydig tumor and male pseudohermaphroditism discovered during inguinal hernia surgery

Abstract

<jats:title>Abstract</jats:title><jats:p>The diagnosis of inguinal hernia is usually clinical and it is performed with high sensitivity and specificity. Very occasionally, it may be confused with other diseases (lymphadenopathy, testicular pathology,etc). We report a rare case of a 80-year-old woman with a clinical diagnosis of hernia, which was underwent surgery and a tumor from the hernia orifice was found. After histological analysis we discovered that the misdiagnosed hernia was actually a tumor on a rudimentary testis. After radiological, gynecological and cytogenetic assessment we obtained an unexpected diagnosis: Male psheudohermaphroditism and Sertoli-Leydigtumor (SLCT) development on the testis. Diagnostic guidance for disorders of sexual development is based almost entirely on pediatric experience and very few guidelines are available for adults. Male pseudohermaphroditism is an intersex condition in which the carriers show a phenotype that includes external female genitalia, but a male genetic and gonadal sex. SLCT are sex-cord stromal tumors which develop in ovary and very rarely in the testis, representing 0.1–0.5% of ovarian tumors and less than 0.2% of testicular tumors. Thus far 24 case have been reported in the literature in which SLCT tumor has developed on testis.</jats:p>

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

“…In our case, a hamartomatous background with SCAs was present, while another case reported an associated SCA [64]. A paramesonephric cyst was also identified in another patient [30]. Follow-up was available only for two patients, which revealed no evidence of disease 12 [33] and 6 [34] months later, respectively.…”

“…In our case, nine SLCTs were reported (4%), occurring only in patients with CAIS (age range: 15-80 years, mean 31 years) [1,12,30,33,34,41,45,64]. The tumor size ranged from 1 to 11.5 cm (mean 3.3 cm); only one case was bilateral [33], and five cases arose in the left gonad [12,34,41,64] and two in the right one [30,45].…”

“…[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]…”

“…In the remaining patients, the type of surgical treat-ment on the gonads was not completely clear; occasionally, additional surgical procedures were carried on (Table 4). 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,…”