{"title":"Pubertal Development as a Marker of Gonadal Neoplasm in 46XY Complete Gonadal Dysgenesis.","authors":"Cristina Villena, Carolyn D Brookhart, Kirsten Das, Swetha Naroji, Veronica Gomez-Lobo","doi":"10.1016/j.jpag.2025.07.003","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>46XY Complete Gonadal Dysgenesis (CGD), also known as Swyer syndrome, is characterized by nonfunctional streak gonads and an increased risk of gonadal neoplasms. While spontaneous puberty is not expected, hormonally active gonadal tumors can mimic normal puberty delaying diagnosis.</p><p><strong>Case presentation: </strong>We present two adolescents with 46XY CGD and tumor-driven puberty: a 16-year-old with spontaneous thelarche and adrenarche with a left gonadoblastoma, and a 14-year-old with spontaneous menarche and pelvic pain who was diagnosed with a dysgerminoma and a sex cord tumor with annular tubules (SCTAT).</p><p><strong>Discussion & conclusion: </strong>Puberty in patients with 46XY CGD should prompt suspicion for gonadal tumors. Early recognition and gonadectomy are crucial to prevent malignant transformation and optimize outcomes.</p>","PeriodicalId":16708,"journal":{"name":"Journal of pediatric and adolescent gynecology","volume":" ","pages":""},"PeriodicalIF":1.8000,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of pediatric and adolescent gynecology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.jpag.2025.07.003","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: 46XY Complete Gonadal Dysgenesis (CGD), also known as Swyer syndrome, is characterized by nonfunctional streak gonads and an increased risk of gonadal neoplasms. While spontaneous puberty is not expected, hormonally active gonadal tumors can mimic normal puberty delaying diagnosis.
Case presentation: We present two adolescents with 46XY CGD and tumor-driven puberty: a 16-year-old with spontaneous thelarche and adrenarche with a left gonadoblastoma, and a 14-year-old with spontaneous menarche and pelvic pain who was diagnosed with a dysgerminoma and a sex cord tumor with annular tubules (SCTAT).
Discussion & conclusion: Puberty in patients with 46XY CGD should prompt suspicion for gonadal tumors. Early recognition and gonadectomy are crucial to prevent malignant transformation and optimize outcomes.
期刊介绍：
Journal of Pediatric and Adolescent Gynecology includes all aspects of clinical and basic science research in pediatric and adolescent gynecology. The Journal draws on expertise from a variety of disciplines including pediatrics, obstetrics and gynecology, reproduction and gynecology, reproductive and pediatric endocrinology, genetics, and molecular biology.
The Journal of Pediatric and Adolescent Gynecology features original studies, review articles, book and literature reviews, letters to the editor, and communications in brief. It is an essential resource for the libraries of OB/GYN specialists, as well as pediatricians and primary care physicians.
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