Sertoli Cell Adenomas in Patients with Testicular Feminization

Neubecker, Robert D.; Theiss, Erich A.

doi:10.1093/ajcp/38.1.52

Cited by 19 publications

(10 citation statements)

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“…Individuals with testicular feminization are male pseudohermaphrodites with a female habitus, a 46 XY karyotype, and with gonads which resemble testicular tissue (14,15). In the complete form of feminization (TFS) they have secondary female constitution, but are without pubic and axillary hair.…”

Section: Discussionmentioning

confidence: 99%

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Ultrastructural Study of Gonads in the Complete and Incomplete Feminization Syndrome

Millonig¹,

Morano²,

Bollero³

et al. 1978

Gynecol Obstet Invest

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The gonads of two individuals with complete and one with incomplete testicular feminization were examined by light and electron microscopy. In the seminiferous tubules of the complete forms, clear, intermediate, and dark-type Sertoli cells could be distinguished. These are immature elements which had assumed, under the influence of hormones, different moΦhology. Leydig cells were also immature, at varying stages of differentiation. In the complete form Sertoli and Leydig cells had an almost normal fine structure; the lamina basalis of the tubules, however, was considerably thickened.

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Section: Discussionmentioning

confidence: 99%

“…Leydig cells resembled mature fetal cells. The tubular nodules were considered rather as hyperplasia of Sertoli cells (7,8) than tubular adenomatous formations (15), since tire nodules were multiple, and also had germinal cells and, in the interstitium, Leydig cells.…”

Section: Discussionmentioning

confidence: 99%

Ultrastructural Study of Gonads in the Complete and Incomplete Feminization Syndrome

Millonig¹,

Morano²,

Bollero³

et al. 1978

Gynecol Obstet Invest

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“…Table 2 reports the results of the series with partially aggregated data, while Tables 3 and 4 highlight the clinic-pathologic data of the cases described in detail. [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]…”

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%

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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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The Problem of Intersex

Caffrey¹

1965

JAMA

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Sertoli Cell Adenomas in Patients with Testicular Feminization

Cited by 19 publications

References 0 publications

Ultrastructural Study of Gonads in the Complete and Incomplete Feminization Syndrome

Ultrastructural Study of Gonads in the Complete and Incomplete Feminization Syndrome

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

The Problem of Intersex

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