{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T19:09:51Z","timestamp":1772996991538,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,2,22]],"date-time":"2026-02-22T00:00:00Z","timestamp":1771718400000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Reports"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Androgen insensitivity syndrome (AIS) is an X\u2010linked recessive genetic disorder caused by mutations in the androgen receptor (AR) gene, leading to androgen resistance and disorders of sex development (DSD) in 46, XY individuals. It is classified into three phenotypes: complete (CAIS), partial (PAIS), and mild (MAIS). CAIS is characterized by normal external female genitalia, primary amenorrhea, and a 46, XY karyotype. While the risk of germ cell tumors (GCTs) in CAIS is generally low due to rapid germ cell depletion from absent AR responsiveness, GCTs still occur in adulthood, and clinical data on such cases remain limited\u2014especially regarding detailed genetic profiling and long\u2010term management outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case<\/jats:title>\n                    <jats:p>This study presents two adult CAIS patients with GCTs, managed at one tertiary hospital in Beijing, China, between 2020 and 2022. Both patients were raised as females and presented with primary amenorrhea:<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case 1<\/jats:title>\n                    <jats:p>A 43\u2010year\u2010old married woman with a 5\u2010year history of abdominal distension and 5\u2010month history of impaired bowel movements. Preoperative imaging revealed bilateral pelvic masses (left: 7.7\u2009\u00d7\u20096.4\u2009cm; right: 2.2\u2009\u00d7\u20092.0\u2009cm), and laboratory tests showed elevated testosterone, LH, FSH, AFP, and \u03b2\u2010HCG. She underwent 3\u2010dimensional laparoscopic pelvic lumpectomy; histopathology confirmed left seminoma and right testicular tissue dysplasia. Whole exome sequencing (WES) identified four AR gene mutations (c.171_191del, c.255_257del, c.1368_1369insGGC, c.T2723C).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case 2<\/jats:title>\n                    <jats:p>A 31\u2010year\u2010old unmarried woman with a history of bilateral inguinal hernia repair (age 2) and prior right pelvic lumpectomy (1\u2009year 8\u2009months prior, with histopathology confirming seminoma). She presented for management of a residual left pelvic mass (3.4\u2009\u00d7\u20092.0\u2009cm). Laboratory tests showed elevated testosterone, LH, and FSH; AFP and \u03b2\u2010HCG were normal. She underwent three\u2010dimensional laparoscopic left pelvic lumpectomy; histopathology confirmed intratubular germ cell neoplasia. WES identified three AR gene mutations (c.171_179del, c.255_257del, c.G2495A).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The two cases highlight the importance of integrating clinical, imaging, hormonal, and genetic data for diagnosing CAIS with GCTs. WES effectively identified multiple AR mutations, which may contribute to the severe CAIS phenotype and GCT development. Postoperative follow\u2010up (12\u201324\u2009months) showed no tumor recurrence, and hormone replacement therapy maintained normal secondary sexual characteristics. These findings improve understanding of rare CAIS\u2010GCT comorbidity and support optimized diagnostic and management strategies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/cnr2.70491","type":"journal-article","created":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T05:12:08Z","timestamp":1771823528000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6492-3213","authenticated-orcid":false,"given":"Fangming","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Urology Tsinghua University Affiliated Beijing Tsinghua Changgung Hospital, Tsinghua University Clinical Institute  Beijing 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