A family with the testicular feminisation syndrome

Nc, Nevin; Willis, J.; Ra, Magee; Wa, Adam

doi:10.1007/bf02938972

Cited by 1 publication

(6 citation statements)

References 2 publications

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“…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%

“…arise as well [6,26,38,72,73,[132][133][134][135][136][137][138][139]. As to our review, most of the gonads of patients with AIS were abdomino-pelvic (51 cases, 23%) [10,[12][13][14][15]21,24,26,[31][32][33]35,37,39,42,[44][45][46]48,49,[51][52][53][54][56][57][58][59]62,[65][66][67][68][69]71,83] or inguinal (18 cases, 8%) [1,8,…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

Section: Scts and Slctsmentioning

confidence: 99%

“…The patients' age range was 8-76 (mean 36.9) years. These tumors occurred in 27 CAIS [8,15,[18][19][20]23,28,37,53,58,69,72,73], 2 PAIS [72,73], and 6 AIS, NOS patients [49,50,54,75,81].…”

Section: Scts and Slctsmentioning

confidence: 99%

“…One or two rudimentary Fallopian tube(s) were described in nine (4%) cases [10,28,34,36,59,71]. Smooth muscle lesions/proliferations were identified in 19 (8%) cases; they were variably considered as rudimentary uterine remnants (myometrial tissue) (3 cases) [30,39,59], leiomyomas (4 cases; 1 left: our case; 1 right [28], 2 bilateral [38,46]), or variably described as bilateral smooth muscle pseudoliomyomastous body (2 cases) [43]; nodular segment of smooth muscle (1 case) [73]: bilateral nodules of smooth muscle (vestigial müllerian) structures (1 case) [56]; fibromuscular tissue at the lower pole (1 case) [69]; right-sided smooth muscle nodules (1 case) [10]; marked smooth-muscle hyperplasia (1 case) [21]; slight fibromuscular thickening (1 case) [83]; and smooth muscle angiomatoid hamartomas (4 cases) [78]. These smooth muscle-bodied/leiomyomas were sometimes large (up to 7 cm) [6].…”

Section: Other Müllerian Remnants Smooth Muscle Lesions and Leiomyomasmentioning

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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Section: Systematic Literature Review Results: Overviewmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Scts and Slctsmentioning

confidence: 99%

“…The patients' age range was 8-76 (mean 36.9) years. These tumors occurred in 27 CAIS [8,15,[18][19][20]23,28,37,53,58,69,72,73], 2 PAIS [72,73], and 6 AIS, NOS patients [49,50,54,75,81].…”

Section: Scts and Slctsmentioning

confidence: 99%