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Androgen insensitivity syndrome: a review.
Delli Paoli E, Di Chiano S, Paoli D, Lenzi A, Lombardo F, Pallotti F. Delli Paoli E, et al. J Endocrinol Invest. 2023 Nov;46(11):2237-2245. doi: 10.1007/s40618-023-02127-y. Epub 2023 Jun 10. J Endocrinol Invest. 2023. PMID: 37300628 Review.
PURPOSE: Androgen insensitivity syndrome (AIS) is a disorder characterized by peripheral androgen resistance due to androgen receptor mutations in subjects with 46 XY karyotype. ...
PURPOSE: Androgen insensitivity syndrome (AIS) is a disorder characterized by peripheral androgen resistance due to and …
Androgen insensitivity and the evolving genetic heterogeneity.
Hornig N, Batista RL. Hornig N, et al. Best Pract Res Clin Endocrinol Metab. 2025 Jul;39(4):102000. doi: 10.1016/j.beem.2025.102000. Epub 2025 Apr 24. Best Pract Res Clin Endocrinol Metab. 2025. PMID: 40335402 Free article. Review.
Androgen Insensitivity Syndrome (AIS) is a 46,XY difference of sex development (DSD) classically caused by mutations in the androgen receptor (AR) gene, leading to variable androgen resistance and a broad phenotypic spectrum traditionally classified as comple …
Androgen Insensitivity Syndrome (AIS) is a 46,XY difference of sex development (DSD) classically caused by mutations in …
Complexities of complete androgen insensitivity syndrome: insights from a case report and literature review.
Asanidze E, Kristesashvili J, Asanidze A, Jibladze A, Gaphrindashvili G, Asanidze B, Bhatia R. Asanidze E, et al. J Int Med Res. 2024 Nov;52(11):3000605241300058. doi: 10.1177/03000605241300058. J Int Med Res. 2024. PMID: 39600030 Free PMC article. Review.
Complete androgen insensitivity syndrome (CAIS) presents significant challenges in the accurate diagnosis and personalized management of individuals with a 46, XY karyotype who exhibit a female phenotype due to complete insensitivity to androgens. ...
Complete androgen insensitivity syndrome (CAIS) presents significant challenges in the accurate diagnosis and personali …
Androgen insensitivity syndrome: Presentation, diagnosis, and management.
Harris DE. Harris DE. Nurse Pract. 2026 Mar 1;51(3):32-38. doi: 10.1097/01.NPR.0000000000000414. Epub 2026 Feb 24. Nurse Pract. 2026. PMID: 41731674 Review.
Androgen insensitivity syndrome (AIS) is a genetic disorder impacting 46,XY individuals. ...
Androgen insensitivity syndrome (AIS) is a genetic disorder impacting 46,XY individuals. ...
Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome.
Patjamontri S, Lucas-Herald AK, Bryce J, van den Akker E, Cools M, Globa E, Guerra-Junior G, Hiort O, Hofman P, Holterhus PM, Hughes IA, Juul A, Nordenstrom A, Russo G, Stancampiano MR, Seneviratne SN, Tadokoro-Cuccaro R, Thankamony A, Weintrob N, Zelinska N, Ahmed SF. Patjamontri S, et al. J Clin Endocrinol Metab. 2025 May 19;110(6):e2018-e2025. doi: 10.1210/clinem/dgae562. J Clin Endocrinol Metab. 2025. PMID: 39213311 Free PMC article.
INTRODUCTION: Partial androgen insensitivity syndrome (PAIS) is a rare condition that is reported to be commonly associated with gynecomastia in males. ...
INTRODUCTION: Partial androgen insensitivity syndrome (PAIS) is a rare condition that is reported to be commonly associ …
Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome.
Wang C, Tian Q. Wang C, et al. Front Endocrinol (Lausanne). 2025 Oct 14;16:1600343. doi: 10.3389/fendo.2025.1600343. eCollection 2025. Front Endocrinol (Lausanne). 2025. PMID: 41163677 Free PMC article. Review.
Complete androgen insensitivity syndrome (CAIS) is a rare X-linked recessive disorder of sex development (DSD) caused by androgen receptor (AR) gene mutation and present with female phenotypes with male chromosomal karyotype. ...
Complete androgen insensitivity syndrome (CAIS) is a rare X-linked recessive disorder of sex development (DSD) caused b …
Sexual health in adult women with complete androgen insensitivity syndrome: a single centre cross-sectional study.
Mangone A, Profka E, Rodari G, Giavoli C, Mantovani G. Mangone A, et al. J Endocrinol Invest. 2025 Aug;48(8):1849-1855. doi: 10.1007/s40618-025-02592-7. Epub 2025 Apr 30. J Endocrinol Invest. 2025. PMID: 40304984 Free PMC article.
OBJECTIVE: We aimed to assess sexual health and body uneasiness in patients with complete androgen insensitivity syndrome (CAIS) using validated questionnaires, since literature is limited and heterogeneous. ...
OBJECTIVE: We aimed to assess sexual health and body uneasiness in patients with complete androgen insensitivity syndrome …
Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis.
Ramos RM, Petroli RJ, D'Alessandre NDR, Guardia GA, Afonso ACF, Nishi MY, Domenice S, Galante PAF, Mendonca BB, Batista RL. Ramos RM, et al. J Clin Endocrinol Metab. 2023 Dec 21;109(1):68-79. doi: 10.1210/clinem/dgad470. J Clin Endocrinol Metab. 2023. PMID: 37572362
OBJECTIVE: To profile the distribution, functional implications, and mechanisms of small indels in the androgen receptor (AR) gene in individuals with androgen insensitivity syndrome (AIS). METHODS: We conducted a systematic review of previously reported inde …
OBJECTIVE: To profile the distribution, functional implications, and mechanisms of small indels in the androgen receptor (AR) gene in indivi …
Magnetic resonance imaging features of complete androgen insensitivity syndrome in comparison to Mayer-Rokitansky-Kuster-Hauser syndrome.
Nakamata A, Matsuki M, Otake Y, Himoto Y, Kaneko Y, Nakaya M, Sudo N, Kikuchi T, Watanabe Y, Kobayashi R, Masuoka S, Kunitomo N, Fujii H, Hamamoto K, Mori H. Nakamata A, et al. Abdom Radiol (NY). 2024 Sep;49(9):3220-3231. doi: 10.1007/s00261-024-04282-z. Epub 2024 Apr 11. Abdom Radiol (NY). 2024. PMID: 38602521
PURPOSE: Complete androgen insensitivity syndrome (CAIS) and Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS) share common clinical features such as female phenotype, vaginal hypoplasia, and primary amenorrhea. ...
PURPOSE: Complete androgen insensitivity syndrome (CAIS) and Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS) share comm …
Hydropathic AF-2 variants in the androgen receptor gene among androgen insensitivity patients.
Giuliatti S, Benedetti AFF, Ramos RM, Petroli RJ, Domenice S, Mendonca BB, Batista RL. Giuliatti S, et al. Andrology. 2025 Mar;13(3):447-458. doi: 10.1111/andr.13680. Epub 2024 Jun 26. Andrology. 2025. PMID: 38923406 Free article. Review.
BACKGROUND: Androgen insensitivity syndrome (AIS) is a common condition among individuals with differences of sexual development (DSD) and results from germline allelic variants in the androgen receptor (AR) gene. ...
BACKGROUND: Androgen insensitivity syndrome (AIS) is a common condition among individuals with differences of sexual de …
36 results