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Case Report

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

by
Apollon I. Karseladze
1,
Aleksandra V. Asaturova
2,*,
Irina A. Kiseleva
3,
Alina S. Badlaeva
2,
Anna V. Tregubova
2,
Andrew R. Zaretsky
4,
Elena V. Uvarova
3,
Magda Zanelli
5 and
Andrea Palicelli
5
1
Oncopathology Department, National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov of the Ministry of Health of Russia, Bldg. 4, Oparina Street, Moscow 117513, Russia
2
1st Pathology Department, National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov of the Ministry of Health of Russia, Bldg. 4, Oparina Street, Moscow 117513, Russia
3
Pediatric Gynecology Department, National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov of the Ministry of Health of Russia, Bldg. 4, Oparina Street, Moscow 117513, Russia
4
Department of Molecular Technologies, Research Institute of Translational Medicine, N. I. Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, Bldg. 1, Ostrovityanova Street, Moscow 117997, Russia
5
Pathology Unit, Azienda USL—IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2024, 13(4), 929; https://doi.org/10.3390/jcm13040929
Submission received: 31 December 2023 / Revised: 28 January 2024 / Accepted: 1 February 2024 / Published: 6 February 2024
(This article belongs to the Special Issue Advances in Gynecological Diseases)

Abstract

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.
Keywords: androgen insensitivity syndrome (AIS); CAIS; testicular feminization; Sertoli cell adenoma; Sertoli cell hamartoma; Sertoli–Leydig cell tumor; leiomyoma; androgen receptor; persistence of fallopian tubes in CAIS androgen insensitivity syndrome (AIS); CAIS; testicular feminization; Sertoli cell adenoma; Sertoli cell hamartoma; Sertoli–Leydig cell tumor; leiomyoma; androgen receptor; persistence of fallopian tubes in CAIS

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MDPI and ACS Style

Karseladze, A.I.; Asaturova, A.V.; Kiseleva, I.A.; Badlaeva, A.S.; Tregubova, A.V.; Zaretsky, A.R.; Uvarova, E.V.; Zanelli, M.; Palicelli, A. Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli–Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review. J. Clin. Med. 2024, 13, 929. https://doi.org/10.3390/jcm13040929

AMA Style

Karseladze AI, Asaturova AV, Kiseleva IA, Badlaeva AS, Tregubova AV, Zaretsky AR, Uvarova EV, Zanelli M, Palicelli A. Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli–Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review. Journal of Clinical Medicine. 2024; 13(4):929. https://doi.org/10.3390/jcm13040929

Chicago/Turabian Style

Karseladze, Apollon I., Aleksandra V. Asaturova, Irina A. Kiseleva, Alina S. Badlaeva, Anna V. Tregubova, Andrew R. Zaretsky, Elena V. Uvarova, Magda Zanelli, and Andrea Palicelli. 2024. "Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli–Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review" Journal of Clinical Medicine 13, no. 4: 929. https://doi.org/10.3390/jcm13040929

APA Style

Karseladze, A. I., Asaturova, A. V., Kiseleva, I. A., Badlaeva, A. S., Tregubova, A. V., Zaretsky, A. R., Uvarova, E. V., Zanelli, M., & Palicelli, A. (2024). Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli–Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review. Journal of Clinical Medicine, 13(4), 929. https://doi.org/10.3390/jcm13040929

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