ArticleAnnals of pediatric endocrinology & metabolism2021
Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review.
Article in Annals of pediatric endocrinology & metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 35 citations in OpenAlex.
- Gonadal Yolk Sac Tumor in a Child with Complete Androgen Insensitivity Syndrome.Indian journal of pediatrics · 2026Article
- MRI analysis of androgen insensitivity syndrome.BMC medical imaging · 2026Article
- Pediatric Complete Androgen Insensitivity Syndrome (CAIS): Clinical Presentation, Hormonal Profiles, and Gonadal ManagementJournal of clinical research in pediatric endocrinology · 2026Article
- Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing.Orphanet journal of rare diseases · 2026Article
- Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation.Clinical case reports · 2026Article
- Testis Molecular Pathways in CAIS Unveil Testosterone/Estradiol on Germ Cell Tumor Risk in Non-Obstructive Azoospermia.The Journal of clinical endocrinology and metabolism · 2026Article
- Complete androgen insensitivity syndrome with cryptorchid sertoli cell tumor: a case report and literature review.Frontiers in medicine · 2026Article
- Complete androgen insensitivity syndrome in a 15-year-old female with primary amenorrhea and undescended testes: a rare case report.Radiology case reports · 2026Article
- Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism.Frontiers in pediatrics · 2026Article
- Article
- A novel androgen resistance gene mutation (p.G590W) in complete androgen insensitivity syndrome: Emphasizing the need for early gonadectomy and integrated patient care.The Journal of international medical research · 2025Article
- Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development.Frontiers in pediatrics · 2025Article
- Estrogen-secreting testicular tumors in 46,XY female patients with 17α-hydroxylase/17,20-lyase deficiency: two unusual case reports and a review of the literature.Frontiers in genetics · 2025Article
- Complexities of complete androgen insensitivity syndrome: insights from a case report and literature review.The Journal of international medical research · 2024Review
- Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli-Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review.Journal of clinical medicine · 2024Article
- Androgen insensitivity syndrome: a review.Journal of endocrinological investigation · 2023Review
- Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes.Annals of pediatric endocrinology & metabolism · 2023Article
- Genetic control of typical and atypical sex development.Nature reviews. Urology · 2023Review
- Complete androgen insensitivity syndrome: a case report and literature review.The Journal of international medical research · 2023Review
- Identification of the Rare Ala871Glu Mutation in the Androgen Receptor Gene Leading to Complete Androgen Insensitivity Syndrome in an Adolescent Girl with Primary Amenorrhea.Children (Basel, Switzerland) · 2022Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Complete androgen insensitivity syndrome (CAIS) is a rare condition characterized by 46,XY karyotype, female external genitalia, absence of uterus, and testes located intra-abdominally, in the inguinal ring or in the labia majora. In the present study, the frequency of testicular malignancy in prepubertal and pubertal patients with CAIS who underwent gonadectomy or gonadal biopsy were evaluated. Systematic review was performed using electronic databases according to the PRISMA-P (Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols) guidelines. The samples included 15 articles published between 1998 and 2019. From a total of 456 patients who underwent gonadectomy or gonadal biopsy, 6.14% had a premalignant lesion and most were postpubertal (82.14%). A malignant lesion was found in 1.3% and all were postpubertal. Because the risk of malignancy is very low in prepubertal patients with CAIS, gonadectomy may be delayed until puberty is complete, allowing it to progress naturally; however, close follow-up of the patient is required.
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