{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T06:16:02Z","timestamp":1788156962027,"version":"build-2803163510"},"reference-count":28,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T00:00:00Z","timestamp":1788134400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Sex-chromosome mosaicism can cause discordant gonadal, ductal, and external genital development. Persistent M\u00fcllerian derivatives are classically associated with defects in anti-M\u00fcllerian hormone (AMH) production or AMH receptor type 2 (AMHR2) signaling in otherwise normally virilized 46,XY individuals, termed persistent M\u00fcllerian duct syndrome (PMDS). In complex mosaicism, however, M\u00fcllerian persistence may reflect mixed gonadal dysgenesis (MGD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A male-reared child presented with marked short stature, severe proximal hypospadias, ventral chordee, penoscrotal transposition, an empty left hemiscrotum, and a palpable right testis. At 2 years and 2 months, his height was 77.5\u2005cm (&amp;lt;\u22123 SD). Peripheral-blood fluorescence\n                      <jats:italic>in situ<\/jats:italic>\n                      hybridization showed mos 47,XYY[108]\/46,XY[60]\/45,X[32]. Exome sequencing identified no explanatory pathogenic variant, including in\n                      <jats:italic>AMH<\/jats:italic>\n                      or\n                      <jats:italic>AMHR2<\/jats:italic>\n                      , whereas copy-number analysis detected a\n                      <jats:italic>de novo<\/jats:italic>\n                      mosaic Yp11.31\u2013q11.223 duplication concordant with the XYY cell line. The AMH level was &amp;gt;18\u2005ng\/mL, the inhibin B level was 166 pg\/mL, and testosterone level increased from 0.03 to 4.41\u2005ng\/mL after human chorionic gonadotropin stimulation. Bladder distension revealed filling or reflux into a presumed prostatic-utricle-like retrovesical cavity. Computed tomography showed a right intrascrotal testis, a retrovesical cystic lesion, and no identifiable left testis. Combined cystoscopic and laparoscopic assessment revised the diagnosis to a M\u00fcllerian remnant complex comprising an infantile uterus, a short vagina, and a left streak-like gonadal-region structure with fallopian-tube-like anatomy. The remnant complex and left gonadal-region tissue were excised with preservation of the right\n                      <jats:italic>vas deferens<\/jats:italic>\n                      , and staged hypospadias reconstruction was initiated. Histopathology confirmed fallopian-tube and dysplastic uterovaginal tissues without identifiable gonadal tissue or malignancy. At 2 years and 10 months, second-stage urethroplasty and correction of penoscrotal transposition achieved a straight penis with a glanular meatus. At approximately 7 months after the second-stage procedure, the child had smooth voiding, favorable uroflowmetry, and no urethrocutaneous fistula or urethral stricture.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This case is most appropriately interpreted as 45,X\/46,XY\/47,XYY mosaic MGD rather than typical 47,XYY syndrome or classic\n                      <jats:italic>AMH<\/jats:italic>\n                      -\/\n                      <jats:italic>AMHR2<\/jats:italic>\n                      -related PMDS. Detectable postnatal AMH does not exclude asymmetric impairment of fetal M\u00fcllerian regression. Combined cystoscopic and laparoscopic assessment clarified the anatomy, delineated resection boundaries, and guided individualized staged reconstruction.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1915927","type":"journal-article","created":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T05:41:33Z","timestamp":1788154893000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Mixed gonadal dysgenesis with M\u00fcllerian remnants mimicking a prostatic utricle in a child with 45,X\/46,XY\/47,XYY mosaicism"],"prefix":"10.3389","volume":"14","author":[{"given":"Shuai","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Pediatric Urology, Dalian Women and Children's Medical Group","place":["Dalian, Liaoning, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenying","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Pediatric Urology, Dalian Women and Children's Medical Group","place":["Dalian, Liaoning, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianyong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Urology, Dalian Women and Children's Medical Group","place":["Dalian, Liaoning, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,8,31]]},"reference":[{"key":"B1","first-page":"e488","article-title":". 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