Complete Androgen Insensitivity Syndrome Presenting as Inguinal Hernia—a Diagnostic Dilemma

Ram, Mahesh; Soni, Deepak; Khan, Shehtaj; Anand, Krishnanand

doi:10.1007/s12262-020-02456-9

Cited by 1 publication

(5 citation statements)

References 7 publications

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“…[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]…”

Section: Systematic Literature Review Results: Overviewmentioning

confidence: 99%

“…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]…”

Section: Systematic Literature Review Results: Overviewmentioning

confidence: 99%

“…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,…”

Section: Systematic Literature Review Results: Overviewmentioning

confidence: 99%

“…Eighty patients (36%) reported SCAs [6,7,9,11,14,16,17,22,24,26,27,31,32,35,36,[38][39][40]42,44,47,48,51,56,57,[63][64][65][66][67][68]70,71,78,79,82,83]. The age range was 11-84 (mean 38) years.…”

Section: Scas and Scnsmentioning

confidence: 99%

“…Most of the cases were described in a CAIS (50/80, 63%) or AIS, NOS (20/80, 25%) context, while only one case arose in a patient with PAIS [6]. When laterality was reported (47 cases, 58%), it appeared that the majority of SCAs were bilateral (n = 25, 31%) [9,14,27,31,32,35,38,42,47,48,57,65,71,82] or located in the left gonad (n = 13, 16%) [24,39,44,51,56,63,64,[66][67][68]71], while only 9 (11%) cases occurred only on the right side [16,26,35,36,40,70,71,83]. No bilateral case clearly arose from patients with PAIS (22 CAIS and 3 AIS).…”

Section: Scas and Scnsmentioning

confidence: 99%

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

Karseladze,

Asaturova,

Kiseleva

et al. 2024

JCM

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Androgen insensitivity syndrome (AIS) is a rare Mendelian disorder caused by mutations of the androgen receptor (AR) gene on the long arm of the X chromosome. As a result of the mutation, the receptor becomes resistant to androgens, and hence, karyotypically male patients (46,XY) carry a female phenotype. Their cryptorchid gonads are prone to the development of several types of tumors (germ cell, sex cord stromal, and others). Here, we report a 15-year-old female-looking patient with primary amenorrhea who underwent laparoscopic gonadectomy. Histologically, the patient’s gonads showed Sertoli cell hamartomas (SCHs) and adenomas (SCAs) with areas of Sertoli–Leydig cell tumors (SLCTs) and a left-sided paratesticular leiomyoma. Rudimentary Fallopian tubes were also present. The patient’s karyotype was 46,XY without any evidence of aberrations. Molecular genetic analysis of the left gonad revealed two likely germline mutations—a pathogenic frameshift deletion in the AR gene (c.77delT) and a likely pathogenic missense variant in the RAC1 gene (p.A94V). Strikingly, no somatic mutations, fusions, or copy number variations were found. We also performed the first systematic literature review (PRISMA guidelines; screened databases: PubMed, Scopus, Web of Science; ended on 7 December 2023) of the reported cases of patients with AIS showing benign or malignant Sertoli cell lesions/tumors in their gonads (n = 225; age: 4–84, mean 32 years), including Sertoli cell hyperplasia (1%), Sertoli cell nodules (6%), SCHs (31%), SCAs (36%), Sertoli cell tumors (SCTs) (16%), and SLCTs (4%). The few cases (n = 14, 6%; six SCAs, four SCTs, two SLCTs, and two SCHs) with available follow-up (2–49, mean 17 months) showed no evidence of disease (13/14, 93%) or died of other causes (1/14, 7%) despite the histological diagnosis. Smooth muscle lesions/proliferations were identified in 19 (8%) cases (including clearly reported rudimentary uterine remnants, 3 cases; leiomyomas, 4 cases). Rudimentary Fallopian tube(s) were described in nine (4%) cases. Conclusion: AIS may be associated with sex cord/stromal tumors and, rarely, mesenchymal tumors such as leiomyomas. True malignant sex cord tumors can arise in these patients. Larger series with longer follow-ups are needed to estimate the exact prognostic relevance of tumor histology in AIS.

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