{"title":"Complete androgen insensitivity syndrome in twins with discordant phenotypes: a case report and review of the literature.","authors":"Kangji Liao, Ying Wang, Xianlin Yi","doi":"10.1186/s13256-025-05139-9","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Complete androgen insensitivity syndrome is caused by inactivated mutations in the androgen receptor gene, which results in complete androgen resistance and a female phenotype with a 46,XY karyotype. This condition is rare in twins.</p><p><strong>Case presentation: </strong>We report on a Han Chinese twin girl, aged 18 years, with the presence of a vagina and breasts but no uterus and ovaries and chromosomal karyotype analysis showing 46, XY, who was diagnosed with complete androgen insensitivity syndrome. The patient underwent bilateral gonadectomy and hormone replacement therapy, and pathological diagnosis showed immature testicular tissue development.</p><p><strong>Conclusion: </strong>In addition to rebuilding the external genitalia and preventing the emergence of gonadal tumors, continuing hormone replacement therapy after surgery is critical for the treatment of complete androgen insensitivity syndrome, and patients' psychological difficulties should be addressed.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"113"},"PeriodicalIF":0.8000,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11907799/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s13256-025-05139-9","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Complete androgen insensitivity syndrome is caused by inactivated mutations in the androgen receptor gene, which results in complete androgen resistance and a female phenotype with a 46,XY karyotype. This condition is rare in twins.
Case presentation: We report on a Han Chinese twin girl, aged 18 years, with the presence of a vagina and breasts but no uterus and ovaries and chromosomal karyotype analysis showing 46, XY, who was diagnosed with complete androgen insensitivity syndrome. The patient underwent bilateral gonadectomy and hormone replacement therapy, and pathological diagnosis showed immature testicular tissue development.
Conclusion: In addition to rebuilding the external genitalia and preventing the emergence of gonadal tumors, continuing hormone replacement therapy after surgery is critical for the treatment of complete androgen insensitivity syndrome, and patients' psychological difficulties should be addressed.
期刊介绍：
JMCR is an open access, peer-reviewed online journal that will consider any original case report that expands the field of general medical knowledge. Reports should show one of the following: 1. Unreported or unusual side effects or adverse interactions involving medications 2. Unexpected or unusual presentations of a disease 3. New associations or variations in disease processes 4. Presentations, diagnoses and/or management of new and emerging diseases 5. An unexpected association between diseases or symptoms 6. An unexpected event in the course of observing or treating a patient 7. Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
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