{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T06:44:34Z","timestamp":1782456274939,"version":"3.54.5"},"reference-count":151,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,2,6]],"date-time":"2024-02-06T00:00:00Z","timestamp":1707177600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Science and Higher Education of the Russian Federation to Pirogov Russian National Research Medical University","award":["075-15-2019-1789"],"award-info":[{"award-number":["075-15-2019-1789"]}]},{"name":"the Italian Ministry of Health","award":["075-15-2019-1789"],"award-info":[{"award-number":["075-15-2019-1789"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>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\u2019s gonads showed Sertoli cell hamartomas (SCHs) and adenomas (SCAs) with areas of Sertoli\u2013Leydig cell tumors (SLCTs) and a left-sided paratesticular leiomyoma. Rudimentary Fallopian tubes were also present. The patient\u2019s karyotype was 46,XY without any evidence of aberrations. Molecular genetic analysis of the left gonad revealed two likely germline mutations\u2014a 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\u201384, 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\u201349, 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.<\/jats:p>","DOI":"10.3390\/jcm13040929","type":"journal-article","created":{"date-parts":[[2024,2,6]],"date-time":"2024-02-06T12:38:24Z","timestamp":1707223104000},"page":"929","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli\u2013Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review"],"prefix":"10.3390","volume":"13","author":[{"given":"Apollon I.","family":"Karseladze","sequence":"first","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra V.","family":"Asaturova","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina A.","family":"Kiseleva","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina S.","family":"Badlaeva","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna V.","family":"Tregubova","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7778-6617","authenticated-orcid":false,"given":"Andrew R.","family":"Zaretsky","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena V.","family":"Uvarova","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8733-9933","authenticated-orcid":false,"given":"Magda","family":"Zanelli","sequence":"additional","affiliation":[{"name":"Pathology Unit, Azienda USL\u2014IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2299-5160","authenticated-orcid":false,"given":"Andrea","family":"Palicelli","sequence":"additional","affiliation":[{"name":"Pathology Unit, Azienda USL\u2014IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1080\/09513590701553852","article-title":"Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli\u2013Leydig cell tumor: Identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor","volume":"23","author":"Jarzabek","year":"2007","journal-title":"Gynecol. 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